Araujo, M Implementation of a telegenetics service in South Africa: genetic

healthcare providers’ perspectives

Borle, K Defining need amid exponential change: conceptual challenges in
workforce planning for genetic medicine
Brown, G Pharmacogelnomics to Avoid Loss of Hearing: Exploring staff views of a
new genetic test to identify babies at risk of antibiotic related hearing loss
Folkerts, E Genetic Counseling Assistants as Patient Schedulers: A New Model of
Patient Intake for Genetics Clinics
Garrido, C Current status of Genetic Counselling for Rare Diseases in Spain
Grant, P Investigating Trends in Out-of-pocket Pay for Clinical Genetic Testing in
British Columbia
Henderson, K An exploration of the perspectives of Genetic Counsellors on the Clinical
Genetics services they provide in Scotland
Henriques, S Reflection and evaluation of teaching cultural communication skills to
genetic counsellors
Inglis, A An internship in psychiatric genetic counselling: Impact on genetic
counselling graduates’ practice and career choices
Liu, Y Genetic Counselors’ Role in Somatic/Germline Paired Whole Exome
Sequencing that Report Germline Variants
Menon, K Incorporation of Genetic Counseling and Testing for Diagnosing Hereditary
Cancer Syndrome: An Indian Perspective
Morgan, K Implications of family registers for clinical intervention and prevention of
disease in families with chromosome abnormalities: A Case Study
O'Donoghue, E The Experiences of Families Receiving a Diagnosis of 22q11.2 Deletion
Syndrome in Ireland
Paliwal, P Genetic counselling for sex chromosome aneuploidies in the era of Non-
invasive prenatal testing (NIPT)
Schwaninger, G Prospects and Challenges for the Genetic Counsellor Profession in the
German-Speaking Countries: Report of a Workshop
Slomp, C Patient perspectives on the potential benefits, barriers and concerns about
using pharmacogenomic testing for depression in British Columbia
Stewart, S A Delivery Service Model for Genetics: The Use of a Genetic Counselor and
Nurse Practitioner Team for Diagnosis and Care in Specific Condition
Populations
Takkar, A Genetic counseling and its challenges in Leber Hereditary Optic
Neuropathy
Thong, M Impact of COVID-19 Pandemic on Genetic Services across Asia
Tripathi, V The Visiting Professionals Programme in Genetic Counselling: a novel
approach to share learning for the development of genetic counselling
internationally
Vella, C Perceptions of genetic counselling amongst Maltese non-genetics
healthcare professionals
Yoon, SY Development of the Professional Standards and the Pathway to
Registration and Certification of Genetic Counsellors in Malaysia

Azevedo Soares, C Genetic counselling of candidates for gamete donation at a public bank
Bhat, D Situation Analysis for counselling the tribal population of Southern
Karnataka, India regarding Sickle Cell Disease: challenges for prevention
and management
Cheah, BE Awareness and Perception of Genetic Counselling Services and the role of
Genetic Counsellor among Healthcare Providers in Malaysia
Cook, C Parents’ perspectives, experiences and need for support when
communicating with their children about the psychiatric manifestations of
22q11.2 deletion syndrome
Cook, C Somatic mosaicism detected by genome-wide sequencing in 500 parent-
child trios with suspected genetic disease: Genetic counselling implications
Goodman, S Genetic Counsellor-led Helpline Service based in the UK Voluntary Sector:
A Service Evaluation
Jacobs, C Genetic counsellors’ perception and readiness for their role in behaviour
change
Karthik Kumar, D Challenges and Opportunities faced in Genetic Counselling of Families with
Variants of Uncertain Significance in India
Kavanaugh, G BRCA-DIRECT: A Digital Information-Giving Model to Expand Cancer
Genetic Testing Services in the UK
Lee, YQ Attitudes and training needs of oncologists and surgeons in mainstreaming
breast cancer genetic counselling in a low-to-middle income Asian country
Lynch, F Exploring the boundaries of genetic counselling: A case study in intensive
care
McClaren, B Development and use of the Australian Reproductive Genetic Carrier
Screening Decision Aid
McClaren, B Preparing a new genomics workforce: The Master of Genomics and Health
Internship program
Morris, E An ethical analysis of divergent clinical approaches to the application of
genetic testing for autism and schizophrenia
O Shea, R Integration of genomic testing in mainstream healthcare: lessons from
oncology
Palekar, A Additional findings – what do parents want from decision aids?
Pichini, A Developing a national newborn genomes programme
Rao, S Pilot study on the landscape of international telehealth: a new service
delivery model
Rao, LP Challenges in genetic counselling of females with X-linked intellectual
disability: A case report
Richardson, E Developing a Core Outcome Set for Reproductive Genetic Carrier
Screening: A New Approach to Understanding Outcomes in Genetics
Saxton, S Relationships Between Outcomes of Psychiatric Genetic Counseling and
Time Since Onset and Diagnosis of Psychiatric Illness
Scott, M Sitting on the fence: Challenges in remaining neutral whilst imparting risk
information
Slomp, C Describing the process of integrating a genetic counsellor into a
multidisciplinary primary care clinic: the Stepwise Process of Integration
Stafford Smith, B Novel and emerging disorders: Pioneering parents confront new challenges
Tutty, E Making decisions about couple-based reproductive genetic carrier
screening: The experiences of couples enrolling in Mackenzie's Mission
Wainstein, T Adolescents’ experiences of genetic counselling, testing, and diagnosis: a
scoping review

Aman, N A Rare Case of Sjogren Larsson Syndrome- Prenatal Genetic Counseling

Beauchesne, R Genetic Counselling Resources in non-English Languages: a Scoping review
Birch, P Using Learning Analytics to Optimize Design of Online Learning Courses in
Genomic Counselling
Butland, L Experiences of HEE-funded secondment to embed a genetic counsellor into
local renal services to support genomics mainstreaming
Devanboo, A Importance of genetic counselling while offering Non-Invasive Prenatal
Testing – Case reports
Esteban, I An overview of the impact of genomics in genetic counselling
Hanmer-Lloyd, C Effectively communicating a child's rare disease (RD) diagnosis to parents:
a potential role for genetic counsellor involvement
Jadhav, S Challenges and Opportunities in Managing Clinical and Genetic Diagnosis:
Ambiguities in Genetic Counselling
Kyada, A Emerging experiences of working in UK clinical genetics services during the
COVID-19 pandemic
Lehmann, A Challenging preconceptions of race in genetic testing for “Ashkenazi Jewish
conditions”
Listyasari, N 20 years of In Vitro Fertilization in Indonesia: Access to infertility care in
developing country
Mahalingam, S Role of Genetic Counselling in Termination of Pregnancy Without
Confirmation for High-Risk results in Non-Invasive Prenatal Testing (NIPT)
Maritska, Z Caregivers’ Views on Genetic Role in Schizophrenia
McSara, H British Pakistani Women’s Perspectives on Genomics and its use in
Healthcare
Moldovan, R Highs and lows of video consulting in clinical genetics: data from a 1year
study
Padmanabhan, H Impact of BRCA1/2 cascade testing on anxiety, depression and cancer
worry levels among unaffected relatives in a multiethnic Asian cohort
Pardo Muñoz, M Risk perception and preferences in risk communication of healthy women
with familial breast cancer history
Parthiban Ramsait, S Combating the diagnostic odyssey in genetic counselling in the post-
genomic era in India
Policarpo, M Development of an online narrative group to improve psychosocial support
for people with hereditary ataxias in Portugal
PRADEEP, S Comparative case studies emphasizing the principal role of genetic
counsellor in informed decision making by the patient and family
Ramanathan, B Socioeconomic challenges and opportunities for genetic counsellors in
providing informed choices for optimised patient care in India
Salman, A Examining the Effect of Patient Personality Dimensions and Coping Styles
on Outcomes of Genetic Counselling
Sehrish, I A case report of novel mutation in the ROGDI gene: Kohlschütter- Tönz
syndrome
Seidi, N Affective meanings about inheriting and transmitting transthyretin-related
familial amyloid polyneuropathy
Winters, P Multisite assessment of the impact of a prenatal testing educational App
on patient knowledge and preparedness for prenatal testing decision
making

Edwards, S Genetic Counsellor Lessons Learned during Mackenzie’s Mission – the

Australian reproductive genetic carrier screening study
Gupta, A Genetic Testing reveals novel mutation in SIX6/TTC8 Gene causing Bardet-
Biedl Syndrome-8: A Case Report
Kharbanda, G Optimal development and Birth outcomes of fetus in high-risk pregnancy
Mador-House, R Building a Genetic Counseling Community in the 6th Largest US State
Sampath Kumar, S Genetic Counselling in Usher Syndrome Changing Scenarios in the Genomic
Era in India
Shaikly, V Inherited conditions in donor conceived offspring: Is screening
proportional or a missed opportunity for risk reduction? A two-year
retrospective evaluation across four commercial overseas donor banks.
Implementation of a telegenetics service in South Africa: genetic healthcare providers’
perspectives
Miss Monica Araujo, Ms Katryn Fourie, Dr Nadia Carstens, Ms Bianca Carzis, Professor Amanda
Krause
National Health Laboratory Service and the University of the Witwatersrand
Traditionally, clinical genetic consultations in the South African public healthcare system were
conducted as in-person consultations. Despite its many advantages, telegenetics was not a mode of
genetic service delivery that was widely used in the South African public healthcare setting prior to the
start of the Covid-19 pandemic. The South African public healthcare system is under-resourced and
burdened with a large number of competing demands owing to our existing infectious disease burden,
which was exacerbated during the Covid-19 pandemic. Access to adequate genetic services in this
system is particularly fragmented and lacking for large parts of the country. There are well organised
but small genetic services, based mostly in academic centres, in three of the nine provinces.
Our study investigated genetic healthcare providers' perspectives on the implementation of a
telegenetics service in the South African public healthcare system during the Covid-19 pandemic. We
used a qualitative research approach to identify shared experiences among genetic healthcare
providers at a Johannesburg based unit.
Participants were selected through purposive sampling from a team of 17 medical geneticists, medical
genetics registrars, genetic counsellors and genetic counselling interns involved in genetic service
delivery through the Division of Human Genetics, National Health Laboratory Services and University
of the Witwatersrand. Data was collected through circulation of a questionnaire consisting of open
ended questions, inviting participants to share their experiences of genetic service provision during the
first wave of Covid-19 in South Africa. This was followed by virtual focus groups consisting of 5-10
individuals to explore themes identified through the questionnaire. Thematic content analysis was
used to identify and report themes found within the data.
Genetics healthcare providers encountered several barriers in the implementation of a telegenetics
service and found that telegenetics consultations were not a viable option for the majority of public
healthcare patients. The majority of patients seen in our setting do not have a stable internet
connection or access to devices that allow for videoconferencing. Poor mobile signal also made
telephonic consultations challenging. The majority of participants in this study felt that the language
barrier between themselves and their patients was exacerbated by not having in-person consultations,
as they were no longer able to rely on visual aids to assist their explanation of certain terms or
concepts.
We believe this study provides a different perspective on the provision of telegenetics services, and
the viability thereof in a developing country.
Defining need amid exponential change: conceptual challenges in workforce planning for
genetic medicine
Ms Kennedy Borle, Nicola Kopac, Nick Dragojlovic, Elisabet Rodriguez Llorian, Larry D. Lynd
Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University
of British Columbia, Canada
The use of genetic services (genetic counselling and testing) has increased rapidly due to
technological advances and greater understanding of the clinical and personal utility of genetic
information. Increased utilization is outpacing the capacity of the genetics workforce (genetic
counsellors and clinical geneticists), and workforce planning is paramount to guide resource allocation
for the future. In health economics, need is said to exist when an individual is not at full health and has
the "capacity to benefit" from healthcare, and when the available healthcare intervention is cost-
effective. Current practices for estimating need use demography, epidemiology, level of service, and
provider productivity as inputs, however there is currently no consensus on how to define need for
clinical genetic services.
This presentation aims to describe why using a needs-based approach to workforce planning is
advantageous in clinical genetics, discuss the particular challenges of defining need in this context,
and make recommendations about workforce planning in this area.
Defining need for genetic services is challenging because 1) genetic services
are complex interventions that are rarely linked to concrete health outcomes, 2) the transformation of
genetic medicine creates uncertainty about the appropriate level of service, and 3) patient preferences
- which are typically excluded from definitions of need - are particularly relevant for genetic medicine.
We recommend that individuals engaged in workforce planning for genetic services should clearly and
explicitly define how need is conceptualized and operationalized. Due to changes in the appropriate
level of service, we also recommend that workforce planning moves beyond extrapolation of historical
trends and prioritizes scenario analysis to explore the impacts of changes in eligibility and disruptive
technologies. We argue that the concept of need should include services that are currently funded by
healthcare systems in the absence of available evidence about cost-effectiveness, and that it may be
appropriate to include non-health related outcomes in the context of clinical genetics. Lastly, we
suggest including patient preferences, since this will yield a more accurate estimate of actual
utilization and prioritizes patient autonomy.
Despite these challenges, a needs-based approach for workforce planning offers immense value to
understand how changes over time will impact the genetic counsellor and clinical geneticist workforce.
Workforce planning that can successfully adjust to the evolving landscape of clinical genetics and
contribute to an expansion of the genetics workforce will be crucial for increased access to genetic
counselling and testing in the future.
Pharmacogenomics to Avoid Loss of Hearing: Exploring staff views of a new genetic test to identify
babies at risk of antibiotic related hearing loss
Georgia Brown, Warrington NR1,2, Ulph F11 Wilson P13, Booth N4, Harvey K5, Newman WG1,2 McDermott
JH1,2 Mahood R 1,2, Tricker K1 , Stoddard D3, Mahaveer A4, Turner M5, Corry R1, Garlick J1, Miele G6,
Ainsworth S6, Kemp L6, Bruce IA7,8 Body R9,10, Roberts P12,MacLeod R1,2

1. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust,
Manchester, M13 9WL, UK, 2. Division of Evolution and Genomic Sciences, School of Biological Sciences,
University of Manchester, Manchester, UK, 3. DS Analytics and Machine Learning Ltd, 12 Hammersmith Grove,
Hammersmith, London, M6 7AP, 4. Newborn Intensive Care Unit, Manchester University NHS Foundation Trust,
Manchester, M13 9WL, UK, 5. Newborn Intensive Care Unit, Liverpool Women’s Hospital, Liverpool Crown St,
Liverpool L8 7SS, UK, 6. Genedrive Diagnostics Ltd, 48 Grafton Street, Manchester, M13 9XX, 7. Hearing
Health Theme Manchester NIHR Biomedical Research Centre, Manchester, UK, 8. Pediatric ENT Department,
Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester, United
Kingdom, M13 9WL, UK, 9. Emergency Department, Manchester University NHS Foundation Trust, Manchester,
M13 9WL, UK, 10. Division of Cardiovascular Sciences, University of Manchester, Manchester, UK, 11. Division
of Psychology & Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, University
of Manchester, Manchester Academic Health Science Centre, Oxford Road, Manchester M13 9PL, UK, 12.
Market Access & Reimbursement Solutions Ltd, 43 Castle Street, Liverpool, Merseyside, 13. Alliance
Manchester Business School, University of Manchester, Manchester, UK

Introduction: Individuals who carry the m.1555A>G mitochondrial variant (present in 1 in 500 of the population)
are at risk of permanent, severe hearing loss or total deafness after a single dose of the antibiotic gentamicin.
Gentamicin is commonly used in the neonatal intensive care unit and is required to be administered within the
first hour of confirmed or suspected infection. Traditional genetic testing methods take approximately 3-4 days
which is not appropriate for use in the neonatal intensive care setting. A new genetic point-of-care test has been
developed, giving a clinically actionable result in 26 minutes. If the mitochondrial variant is present, an
alternative antibiotic treatment is prescribed. Gathering the opinions of the members of staff working in the
neonatal intensive care unit who are involved in carrying out the new test is essential in its development and
potential roll out to other neonatal intensive care units in the UK.

Methods: Participants (n=16) were interviewed on two occasions: at the beginning of implementation of the new
genetic point-of-care test (T1) and nine months after implementation (T2). Eight participants were available for a
second interview at T2. Purposive sampling was used to recruit participants at T1 and semi-structures
interviews were conducted face-to-face or over the telephone. Interviews were digitally recorded then transcribed
and anonymised. Transcripts were analysed using thematic analysis.

Results: The main themes to emerge from analysis of the transcripts were facilitators to implementation, barriers
to implementation and recommendations for future roll out of the test.

Conclusion: Whilst initial concerns were raised around the 26 minutes to run the test, these concerns were
allayed as participants grew in confidence and the test became incorporated into standard practice.
Understanding the clinical utility, adapting established clinical pathways, effective training, team working and
support from colleagues were the main facilitators to successful implementation. The time-consuming nature of
the initial data entry process, connectivity and technical issues with the test equipment were identified as the
main barriers. All participants felt there was a potential to incorporate the new genetic point-of-care test into
future practice as long as the barriers were addressed. Participants made suggestions to facilitate successful
national implementation.
Genetic Counseling Assistants as Patient Schedulers: A New Model of Patient Intake for
Genetics Clinics
Ms Emma Folkerts, Deanna Brockman, MS, CGC, Renee Pelletier, MS, CGC, Heidi L. Rehm, PhD
Massachusetts General Hospital, Broad Institute
Background: At the Massachusetts General Hospital (MGH), patient intake for a genetics clinic is a
time-intensive process that requires triaging referrals, coordinating clinician-patient availability, and
fielding patient questions. Historically, this process was disjointed -- involving documentation by
administrative personnel without prior genetics knowledge, review by a genetic counselor (GC) for
triaging, then back to administrative personnel for scheduling. This process often led to
miscommunication, slowed patient intake, and overburdened GCs.
In a newly established Preventive Genomics Clinic, we sought to reconstruct this process by utilizing
genetic counseling assistants (GCAs), a role usually confined to administrative assistance to GCs in
the United States. Our clinic expanded the GCA role to include triaging and scheduling, eliminating the
administrative personnel.
With intensive training on triaging models and GC support, as well as professional incentive to learn
about genetic diseases and healthcare systems, GCAs bring a level of expertise and motivation to
patient assessment and reduce the need for GC input during the intake process. Here, we describe
this new model of the GCA role at the MGH PGCas an effective alternative to traditional patient intake
methods.
Methods: With this new role we first developed the following intake process: the GCA (1) reviews
referral, (2) triages to correct providers, (3) contacts patients to coordinate availability, and (4)
schedules patients and sends their intake materials. Results were obtained from the Redcap PGC
Patient Tracker, which contains the number of referrals the PGC has received from its inception in
2019, and their scheduling outcome.
Results: Since the launch of the Preventive Genomics Clinic in October 2018, we received 296 patient
referrals. 61.4% (182) have been successfully scheduled, while 7.1% were lost to followup, 13.8% (42)
are pending scheduling, and 18.2% (54) were declined by GCAs as they were not within the scope of
our clinic.
Conclusions: Our experience to date suggests that GCAs are important members of the patient intake
process, capable of managing a high volume of patient referrals and onboarding patients efficiently.
With a high number of incorrect referrals, both the PGC and patients benefit from a GCA's ability to
assess a patient's needs with minimal input from GCs. In addition, GCAs benefit from the active
learning environment offered by a genetics clinic, in preparation for a graduate program. Overall, we
predict that with these expanded responsibilities GCAs will be an indispensable asset for genetics
clinics.
Current status of Genetic Counselling for Rare Diseases in Spain
Dr. Carmen Garrido, Sara Álvaro-Sánchez (1), Irene Abreu-Rodríguez (2), Anna Abulí (3), Clara Serra
(4) and M.Carmen Garrido-Navas (1)(5)(6)
1. CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain;
contacto@congen.es, 2. Genetics Service, Hospital del Mar Research Institute, IMIM, Barcelona,
Spain, 3. Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction,
Dexeus Women's Health, Barcelona, Spain, 4. Department of Clinical and Molecular Genetics Hospital
Valle Hebron, Medicine Genetics Group VHIR, Barcelona, Spain, 5. Genetics Department, Faculty of
Sciences, Universidad de Granada, 18071, Granada, Spain, 6. GENyO, Center of Genomics and
Oncological Research, Avda. de la Ilustración, 114, Granada, Spain
Genetic counsellors play an essential role providing personalised information and support to patients
with rare diseases (RRDD) and other genetic disorders. However, Spain still does not recognise
geneticists or genetic counsellors as healthcare professionals contrarily to what occurs in the rest of
developed countries. Thus, patients with RRDD face not only challenges associated with their own
disease but also deal with diagnostic delays, lack of knowledge, uncertainty in management and
treatment, as well as other psychosocial issues.
The use of high-throughput Next Generation Sequencing (NGS) technologies as well as artificial
intelligence shortens the time to diagnosis and increases the diagnostic yield of RRDD, particularly of
undiagnosed individuals with a suspected genetic condition. This improvement on diagnostic efficiency
comes with some shortcomings that should be addressed with a genetic counsellor, such as
identification of variants of uncertain significance (VUS), secondary and/ or incidental findings, etc.
Also, the fact that some patients have multiple disease-causing variants or even concurrent genetic
diagnoses complicates interpretation of genetic data and thus, requires professionals trained in
genetics and counselling capable of interpreting and communicating this information.
Spain has more than 100 public or private centres providing Genetic Counselling Services although
the vast majority essentially focus on hereditary cancer or reproductive issues. Here, we highlight the
importance of genetic counsellors helping people affected with RRDD, as well as we evaluate the
current situation in which rare disease patients and their closest relatives receive genetic services in
Spain. We describe the main units and strategies at the national level offering assistance to patients
with RRDD, highlighting the Action Strategies proposed in the 2014 update of the Strategy for Rare
Diseases of the Spanish National Health System. Finally, we emphasise the unmet needs that Spain
must overcome to improve management of patients with RRDD, what will involve: a) creation of
multidisciplinary teams capable of providing integrative solutions for the needs of patients with RRDD,
in which strategies and clinical guidelines at national level can be implemented, allowing better
coordination between different centres, to guarantee equal access of patients to quality health
services and b) update of current registries of RRDD to understand epidemiology and needs for each
disease raising awareness in society about existence of RRDD and facilitating access to available
genetic health services.
Investigating Trends in Out-of-pocket Pay for Clinical Genetic Testing in British Columbia
Mr Peter Grant (1), Sylvie Langlois, MD (1), Larry D. Lynd, BSP, PhD (2), Jennifer Nuk (3), SzeWing
Mung (3), GenCOUNSEL Study, Jehannine C. Austin PhD, MSc, CCGC (1,4,5), Alison M. Elliott PhD,
MS, CGC (1,6,7)
1. Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver,
British Columbia (BC), Canada., 2. Collaboration for Outcomes Research and Evaluation (CORE),
Department of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada, 3.
Hereditary Cancer Program, Vancouver, BC, Canada, 4. Department of Psychiatry, University of
British Columbia, Vancouver, BC, Canada, 5. BC Mental Health and Substance Use Services
Research Institute, Vancouver, BC, Canada, 6. BC Children’s Hospital Research Institute, Vancouver,
BC, Canada, 7. Women’s Health Research Institute, Vancouver, BC, Canada.
Introduction In British Columbia (BC), the Medical Services Plan (MSP) public health insurance makes
funding decisions on clinical genetic tests that are not provided by BC laboratories. Patients who are
declined funding based on clinical indication and medical necessity are left with the decision of
whether to finance testing out-of-pocket (OOP). As of June 1st 2018, MSP delegated the responsibility
for making such funding decisions to the BC Agency for Laboratory and Pathology Medicine
(BCAPLM). The aim of this study was to examine the effect of this change, by exploring trends in
completed tests and uptake of patient OOP pay, from January 1st 2015 - December 31st 2019. In
addition, this study aimed to explore relationships between patient OOP pay and variables such as
clinical indication, postal code, and income.
Methods De-identified patient data was received in aggregate from two sources, the BC Provincial
Medical Genetics Program (PMGP) and the BC Cancer Hereditary Cancer Program (HCP). To
examine the effect of the change in funding authority, PMGP data was used to produce descriptive
statistics and interrupted time series analyses using SAS software 9.4 for Windows. HCP data was
used to produce descriptive statistics regarding the relationships between patient and test
characteristics with OOP pay.
Results From 2015 to 2019, the number of completed tests approved through the PMGP and HCP
rose year-on-year, with increases of 260% and 320%, respectively. In the MSP period, the number of
completed tests did not change (mean difference per month, +0.33; 95% CI -0.37, 1.02, p=0.35). In
the BCAPLM period, the number of completed tests increased by 2.35 per-month (95% CI 1.03, 3.66,
p=0.00). Following the changeover, the monthly volume of known mutation tests, panel tests, and
exome singletons increased considerably, whereas the volume of single gene tests and exome trios
decreased. Under BCAPLM, the likelihood of a patient having an OOP payment decreased by 87%
(95% CI 0.06, 0.32, p=0.00). Patients who paid OOP had a higher average income (CAD$43,825)
than those who received funding (CAD$40,441), indicating that patients with lower incomes were less
likely to pay OOP.
Conclusions While many factors are contributing to the demand for and coverage of clinical genetic
testing, for example, emerging data about the utility of exome sequencing for singletons vs. trios,
coverage of genetic and genomic testing has improved in BC since the introduction of BCAPLM.
An exploration of the perspectives of Genetic Counsellors on the Clinical Genetics services
they provide in Scotland
Mrs Kirsten Henderson, Heather Hopper
Plymouth University
The aim of this study was to explore the perspectives of genetic counsellors about the clinical genetic
services they provide in Scotland. The objectives were to explore the leadership structure in which
genetic counsellors were practicing within the Scottish services; to identify the model of service
provision in which they practiced and explore their views on the appropriateness of this; to discuss the
effectiveness of the services they provided and to identify any improvements that could be made.
A qualitative descriptive approach was taken to explore and gain clarity around an area which is
lacking in research. Semi-structured interviews were carried out with a convenience sample of 8
genetic counsellors recruited from across the four main regional genetics sites in Scotland. The
interviews were conducted face to face using Microsoft Teams. A thematic analysis process using
was used to analyse the data gathered via interviews. NVivo qualitative data analysis software was
used to assist in coding the data into themes and sub themes
Findings from this study were categorised into five main themes; current considerations, challenges,
strengths, models of practice; and training and development. Identified sub-themes included the
leadership structure of clinical genetics services; the counselling component of genetic counselling;
changing times and resistance to change; high quality staff and effective teamwork; and training and
development needs and the sharing of resources.
This research highlighted questions around the fit of clinical genetics services being positioned under
laboratory directorates. That clinical genetics services are going through a period of change was
explored, although possible resistance to change was identified. There was agreement that the
counselling aspect of the role was important, however, it seems there were differences in the way this
was practiced. Discussion about the importance of exploring shared values and vision was highlighted
mainly with regards to professionals working from different models of healthcare, working together.
There was interest expressed in working more collaboratively across the Scottish services especially
in the context of learning and development.
The main strength identified within the Scottish genetics services was that genetic counsellors were
considered to be of a high quality and felt part of supportive and effective teams. The genetic
counsellors expressed satisfaction in being a genetic counsellor.
This research opens possibilities for further exploration and conversations around the themes and
sub-themes highlighted, providing a platform for improvement and development in the future.
Reflection and evaluation of teaching cultural communication skills to genetic counsellors
Ms Sasha Henriques, Zelpha D'Souza, Manchester Centre for Genomic Medicine
Rhona Macleod, Manchester Centre for Genomic Medicine, Guy's Clinical Genetic Service,
Manchester Centre for Genomic Medicine
This presentation is a summary of my reflections, the outcomes and feedback from my experience of
delivering cultural competence teaching and related presentations throughout the global genetic
counselling community.
In caring professions, such as nursing and midwifery, where there have been attempts to diversify the
workforce, there have been corresponding improvements in patient satisfaction, patient engagement,
professional competency and a reduction in institutional racism. Increasing the number of
underrepresented minorities in a health profession increases access to services for all populations and
enhances the cultural competency of all providers.
The challenges for increasing diversity in the UK genetic counselling workforce however are
multifaceted. We are often faced with complex socioeconomic inequity and the challenges of being a
small workforce serving large populations. While there are many social and financial strategies
needed to provide equitable health services one approach, which has shown mixed success, is the
provision of the cultural competence training.
As a genetic counsellor who has lived and worked in some of the most diverse places in the world my
practice has been strengthened by my understanding of the richness of ideas and improved outcomes
for all that true equality diversity and inclusivity can bring. My personal experience and my
professional experience as a genetic counsellor in the UK and South Africa led to the development of
a package of cross cultural communication skills teaching for genetic counsellors. This teaching has
grown and is now an integral part of the module on the communication skills for the Scientist Training
Programme (STP) for genomic counsellors in England. The module is delivered by Manchester centre
for genomic medicine and the University of Manchester, and has now received a teaching excellence
award from the Institute of Teaching and Learning at the University of Manchester.
My current practice as a Principal Genetic counsellor at Guy's Genetic Service and as a member of
the Association of Genetic Nurses and Counsellors (AGNC) has demonstrated a true desire by the
genetic counselling community to solidify their approaches to equitable and culturally competent
services for the populations they serve.
Through this presentation I will share my evaluation of the current cultural competence training
available for the UK genetic counselling community and its role in addressing the health disparities
seen in genetics. I will also present some of the challenges faced and propose approaches to address
them in the future.
An internship in psychiatric genetic counselling: Impact on genetic counselling graduates’
practice and career choices

Ms Angela Inglis, Brianna Van den Adel1, Jehannine Austin1,2

1Department of Medical Genetics, University of British Columbia, Vancouver, BC, CANADA

2Department of Psychiatry, University of British Columbia, Vancouver, BC, CANADA

Though psychiatric genetic counselling has been shown to have meaningful positive impacts on
patient outcomes, there is currently only one specialist psychiatric genetic counselling clinic (located in
Vancouver, BC). The service is inconsistently offered elsewhere, leaving this patient population largely
underserved. In an effort to expand psychiatric genetic counselling, the clinic in Vancouver has been
providing specialist internship training to genetic counselling students since 2012. This study explored
the impact of the internship training on genetic counselling graduates' careers and practice. Using an
interpretive description approach, we recorded and transcribed interviews with past-interns. Coding
and data analysis were conducted concurrently, the interview guide was iteratively revised through the
interview process, and memoing was used to record ideas about the data and interviews throughout.
From interviews with 15 past interns, we generated a theoretical model - "a fragile dream, easily
broken" - describing the impact of the training on participants careers. Completing an internship in
psychiatric genetic counselling positively influenced students' desire to work in the specialty, and some
participants made efforts to creating specialist positions for themselves. However, setbacks and
hurdles left many participants feeling defeated, resulting in them accepting established roles in other
disciplines. In order to successfully expand psychiatric genetic counselling, our findings suggest that
1) entrepreneurial skills training may be of benefit in the genetic counselling training programs, and 2)
the onus may be on the institutions to create these positions. Our findings could also have implications
for the development of other new genetic counselling specialties.
Genetic Counselors’ Role in Somatic/Germline Paired Whole Exome Sequencing that Report
Germline Variants
Ms. Yi Liu, Grace-Ann Fasaye, Alexandra Lebensohn, Hermi Mesfin, Margarita Raygada, Chimene
Kesserwan, Kathleen Calzone
National Cancer Institute, Center for Cancer Research, Genetics Branch, National Institutes of Health,
United States of America
Tumor Sequencing is aimed at the identification of actionable somatic variants. In order to detect the
true somatic variants in tumor samples, it is necessary to have a matched normal sample to filter out
germline variants. In somatic/germline paired whole exome sequencing (S/G WES) test, germline data
are used to be subtracted from the tumor testing resulting in somatic only findings. Concurrently, a
defined germline gene list is analyzed for variant reporting. Based on our experience launching a
clinical S/G WES test, genetic counselors (GC) played an essential role as outlined in this suggested
model. Due to the test complexity and clinical implications of the results, the role of GC in a
multidisciplinary team conducting S/G WES test encompasses the following elements. In the test
development stage, GC helped develop the workflow, which includes test consent content, pre/post-
test counseling, pipeline for samples, and variant sign-outs. GC were also involved in development of
education materials contributing to test report result template and the list of germline genes that
should be reported. In the test launch stage, GC were integrally involved in provider orientations of the
test and establishing reference documents such as Standards of Procedures. In the ongoing stage of
interfacing with the laboratory, GC provide a bridge between the ordering providers. GC provide
detailed information on the patient's personal and family history of cancer contributing to variant
interpretation especially in the context of variants of uncertain significance. In the clinical delivery
process, GC give education and informed consent assuring patients understand the test benefits,
harms, and limitations while respecting the patients' autonomous choice. Detecting a germline
pathogenic or likely pathogenic variant can reveal additional cancer risks, screening options, and risk
management possibilities. In the context of advanced cancer, germline variant clinical management
requires discussion with the treating oncologist. Thus, in the patient centered post-test result session,
GC utilize input from the treating provider and their counseling/medical training skills to tailor to
individual patient needs. In conclusion, GC play crucial roles in the development and successful
execution of S/G WES cementing their role in precision health.
Incorporation of Genetic Counseling and Testing for Diagnosing Hereditary Cancer Syndrome:
An Indian Perspective
Ms Krishnendu Menon, MSc PGDGC, Dr. Q.Annie Hasan, Ph.D. FNASc
Consultant & HOD, Department of Genetics and Molecular Medicine, Kamineni Hospital, Hyderabad
Department of Genetics and Molecular Medicine, Kamineni Hospital, Hyderabad
Hereditary cancer syndromes are responsible for approximately 10-15% of all cancers. However,
taking only those cancers which are associated with familial/hereditary cancers, our study indicates
that >56% of them may require testing. A multidisciplinary approach is critically important for
successful management due to the complicated nature of hereditary cancer syndromes. As an
important part of the above, professional genetic counseling is mandatory. Genetic counselors have
the necessary expertise and are capable of recognizing HCS by the means of various tools such as
pedigree analysis, age of onset, and IHC markers thus enabling pre-test counseling and selecting
appropriate tests. The awareness regarding the importance of genetic tests is rising in society but due
to the financial burden and high cost of the tests, for a common man, affordability tends to be hard.
70% of the individuals in our study could not afford to take the test, as their imminent priority was to
spend on treatment of the patient, thus leaving them financially incapacitated for genetic testing.
Governmental programs do not include genetic testing as a part of their cancer welfare programs
though it is of extreme importance. Thus government schemes and programs need to be implemented
that will aid the families in undergoing the genetic tests.
It is usually believed that testing for HCS gives, gives a very low yield, that is because of the
misidentification of cases, due to which resources are wasted. From our study, we can conclude that
by proper selection of patients requiring HCS screening, resources available can be better utilized.
53% of our suspected patients were confirmed to have HCS syndrome. Based on the pedigree alone,
a minimum of 5-12 at-risk family members requires cascade testing and surveillance. Targeted
management strategies can be utilized for a larger cohort, to reduce associated morbidity and
mortality helping the family and society at large. The data from our study indicative of a high
percentage of probable HCS cases (56%), indicates the importance of genetic counseling and
counselors in an oncology unit in the present healthcare system. Apart from this 18 cases also
benefited from pharmacogenomic testing. With rapid strides being made in the field of oncology, the
need for genetic counselors and counseling is crucial and needs to be made mandatory as part of the
oncology unit in India.
Implications of family registers for clinical intervention and prevention of disease in families
with chromosome abnormalities: A Case Study
Kylie Morgan, Kylie Morgan, Genetic Counsellor1, Chandni Patel, Trainee Genetic Counsellor1;
Tahni-Ann Wilson, Genetic Counsellor1; Anna Lehman, Genetic Counsellor1; Eshika Haque, Principal
Genetic Counsellor1; Charlotte Tomlinson, Consultant Genetic Counsellor1.
1South East Thames Regional Genetics Service, Guy’s and St Thomas’ NHS Foundation Trust,
London, UK
Introduction:
Genetic family registers are embedded in UK clinic services. Inconsistent dissemination of genetic
information in families is widely reported in the literature, as having implications for health and
reproduction. Yet the resources needed to maintain family registers which demonstrate one strategy to
facilitate family communication, continues to be examined.
The GSTT service Chromosome Family Register (CFT) includes families and individuals at risk of
carrying a familial chromosome abnormality. Whilst balanced translocation carriers are unaffected,
genetic counselling is recommended when balanced translocation carriers reach reproductive age.
Materials and Methods:
An audit of the GSTT CFT was carried out to identify individuals at reproductive age who had not yet
engaged with the clinical genetic service. 749 CFT records were reviewed. 138 patients of
reproductive age, from 99 families were identified and information letters sent.
Results:
Following information letters, an increase in contact from at risk family members was observed.
Patients self-reported concern about their previously unknown risk. Some were referred with a direct
and immediate need for genetic counselling. We highlight the impact of this intervention with a case
study of a 21 year old pregnant female.
Summary:
Clinical services are evolving in response to growing patient numbers and distribution of labour. Here
we provide a case study reflecting the direct and immediate impact of patient recall via Genetic family
registers on patient's reproductive choices.
The Experiences of Families Receiving a Diagnosis of 22q11.2 Deletion Syndrome in Ireland
Ms Emma O'Donoghue, Prof. Marion McAllister, Ms. Roberta Rizzo
Cardiff University, Centre for Medical Education, Wales, United Kingdom, Children's Health Ireland,
Dublin, Ireland
Background: 22q11.2 deletion syndrome (22q11DS) diagnoses may not be communicated to families
in Ireland in a family-centred manner. Families often wait over one year to see a genetic counsellor.
This study aimed to explore the experiences of 22q11DS families regarding the need for timely access
to genetic counselling, within a specialised 22q clinic.
Methods: Parents of children with 22q11DS were recruited through 22q Ireland. Semi-structured
interviews explored experiences of diagnoses, medical care, genetic counselling and mental health
(MH). Interviews were transcribed verbatim and analysed using thematic analysis.
Results: The experiences of 20 participants were classified into five main themes; Receiving
Diagnosis, Interactions with Healthcare Professionals (HCPs), Medical Care, Information and Impact
of Condition. Participants reported receiving diagnoses for their children in a sub-optimal manner due
to inappropriate settings and insufficient information, support and pre-test counselling. Parents
reported feeling responsible for managing their child's fragmented medical care. Participants reported
insufficient empathy and little awareness of 22q11DS amongst HCPs. Participants perceived genetic
counselling to be predominantly associated with family planning and reported delayed, if any, access
to genetic counselling services. MH was a particular worry amongst participants. 22q Ireland
conferences are the main source of information for parents. Participants reported a range of emotions
after diagnoses and described the family impact.
Conclusions: Findings suggest associations between HCPs poor understanding of 22q11DS and the
perceived lack of empathy and fragmented care experienced by parents. Increased awareness of
22q11DS amongst HCPs and development of a coordinated care pathway for 22q11DS with timely
access to genetic counselling, both at point of diagnosis and at transition, may improve care and lead
to better outcomes.
Genetic counselling for sex chromosome aneuploidies in the era of Non-invasive prenatal
testing (NIPT)
1. Dr PREETI PALIWAL, 2. DR SEEMA THAKUR
3. DR CHANCHAL SINGH AHMAD
1. SIR GANGA RAM HOSPITAL, NEW DELHI
2. FORTIS HOSPITAL, NEW DELHI
3. RAINBOW CHILDREN HSPITAL, NEW DELHI
Introduction of NIPT has revolutionised prenatal genetic testing particularly for the females who are
assessed to be at high risk for fetal aneuploidy based on radiological and biochemical findings. The
combined specificity of NIPT is high for autosomal aneuploidies i.e. trisomies 21, 18, and 13. Sex
chromosome aneuploidies (SCA), including monosomy X (45,X), Klinefelter syndrome (47,XXY or
48,XXYY), triple X syndrome (47,XXX), and 47,XYY, with a combined prevalence of 1: 500 are more
common than the major trisomies. The phenotype although milder compared to other common
aneuploidies can present with physical abnormalities, learning delays, and infertility. The positive
predictive value of NIPT for these range from 83.3% for mosaics to 28.3% for monosomy X. This
poses a significant challenge for genetic counselling and the difficulties in decision making are obvious
as such outcomes are not strong enough to consider termination of pregnancy.
In the present study we present pre and post-test counselling of 15 such cases that tested positive on
NIPT for SCA. Out of these nine cases were detected to be monosmy X and only two (22.2%) were
confirmed on amniocentesis, rest all were reported to be normal on invasive testing. Other cases
include three case of trisomy X, one case of XXY, one case of XYY (all five confirmed on
amniocentesis) and a case of XXY detected on NIPT where Fluorescent in situ hybridisation (FISH) on
amniocenetsis was normal for fetus however mother's karyotype revealed presence of trisomy X.
These cases highlight the limitation of NIPT in detection of SCA and how this adds to challenges in
counselling such patients. Counselling of such cases requires thorough information about the clinical
presentation, phenotypic variability, availability of management options for hypogonadism and
infertility. Pre-test counselling before NIPT should include the possibilities of unintended outcomes as
the screening tests are focused on autosomal trisomies and the sex chromosomal aneuploidies are
incidental findings following the screening test. Post-test counselling should focus on the specific
disorder that should include the frequency of these disorders in general population, the neurocognitive
and fertility effect of the identified aberration. The option of invasive testing should be discussed in
detail, entailing the concordance of result for each chromosomal aberration and how the underlying
aberration can impact the health of the fetus in long term. This in turn would help prospective parents
to take a personalized and autonomous decision regarding their pregnancy.
Prospects and Challenges for the Genetic Counsellor Profession in the German-Speaking
Countries: Report of a Workshop
Mrs Gunda Schwaninger, Gunda Schwaninger1, Simone Heidemann2, Wera Hofmann3, Tamara
Maurer1, Katharina Mayerhanser4, Joelle Ronez5, Herdit Schüler6, Katharina Steinmüller7, Sabine
Rudnik-Schöneborn1, Johannes Zschocke1
1 Institute of Human Genetics, Medical University of Innsbruck
2 Institut für Tumorgenetik Nord, Kiel
3 Genetikum, Stuttgart
4 Institute of Human Genetics, Technical University Munich, Munich
5 Institute of Human Genetics, Medical University Hannover
6 Institute of Human Genetics, Universitätsklinikum Aachen
7 Medizinisch Genetisches Zentrum, Munich
The Genetic Counsellor profession has not yet been established in the German-speaking countries. In
2019 the Medical University of Innsbruck inaugurated the first German-taught Masters-degree
programme in Genetic and Genomic Counselling. In order to discuss prospects and challenges of the
genetic counsellor profession in Germany, Austria and Switzerland (DACH region), the MSc
programme team organized a two-day workshop with international speakers and medical geneticists
from the DACH region. Day 1 was dedicated to the history, training and international profile of the
genetic counsellor profession. Day 2 focused on four specific topics: professional role, acceptance and
job title, formal requirements, and remuneration concepts for genetic counsellors in the DACH region.
The workshop showed that the key factor for the successful implementation of the genetic counsellor
profession is acceptance and trust within the medical genetics team. Genetic counsellors complement
patient care in aspects that might be underserved considering the increasing demand for counselling
in genomic medicine. Successful establishment of the genetic counsellor profession will entail the
development of interprofessional teams under the medical supervision and in the team of medical
geneticists.
Patient perspectives on the potential benefits, barriers and concerns about using
pharmacogenomic testing for depression in British Columbia
Ms. Caitlin Slomp, Emily Morris, Louisa Edwards, Alison M. Hoens, Linda Riches, Lisa Ridgway,
Anonymous Patient Partner, Stirling Bryan, Jehannine Austin
University of British Columbia, Vancouver Canada
Introduction: Patients with depression are often treated with medication and the process of finding an
effective medication can be a process of trial-and-error. The interindividual differences in response to
pharmacological treatments are thought to reflect, in part, genetic variation in medication metabolism.
While there are many documented clinical limitations and barriers to routine use of pharmacogenomic
(PGx) testing for medication decisions for patients with depression, more knowledge is needed about
how stakeholders - including patients - view the use of PGx testing within the healthcare system.
Objectives: The purpose of this study was to explore patient perceptions of the utility of PGx testing for
depression. We sought to understand perceptions of both the benefits and potential barriers to and
concerns associated with the potential use of PGx testing within the healthcare system of British
Columbia (BC), Canada.
Methods: We recruited individuals with a history of depression and antidepressant use, living in BC, to
participate in individual 1 hour, semi-structured, interviews. We used the Sustainability of Innovation
theoretical framework to understand views about using PGx testing for depression within the
healthcare system. Interviews were recorded, transcribed verbatim and analyzed concurrently with
data collection using interpretive description.
Results: Seventeen interviews were conducted - with seven individuals who had previous PGx testing
for antidepressant response and ten without PGx testing experience. Participants' perspectives on
PGx testing varied widely along a spectrum from entirely positive and optimistic, to the view that
offering PGx testing for depression would be irresponsible. The negative perspectives of PGx testing
were held by two people who had had disappointing personal experiences with PGx testing.
Participants were hopeful that PGx testing could help patients find a more effective antidepressant,
reduce the time and energy required to find an effective treatment, reduce side effects, and validate
depression as a real clinical condition. Many participants were cautiously optimistic about the use of
PGx testing in BC, provided it was backed by sufficient evidence of utility and that numerous
implementation concerns were addressed, including: cost of testing, data privacy, equitable access to
testing, appropriate and ethical clinical application of results, and availability of appropriate emotional
and practical supports.
Conclusion: Although individuals with depression are generally hopeful about potential benefits that
PGx testing could confer, they also have numerous concerns. These concerns need to be addressed
in order to provide PGx testing in an effective and equitable manner within the BC healthcare system.
A Delivery Service Model for Genetics: The Use of a Genetic Counselor and Nurse Practitioner
Team for Diagnosis and Care in Specific Condition Populations
Sarah Stewart, MS, CGC, Shayna Svihovec, MS, CGC
Children's Hospital Colorado and University of Colorado Anschutz Medical Campus
In recent years, it's been well documented that there is a shortage of genetics providers at all levels.
This has led to many genetic centers developing novel delivery models for genetics services in order
to address the growing need for access to genetics in the setting of a limited genetics-certified
workforce. In review of the literature, alternative service delivery models - such as telehealth and
genetic counselor involvement with non-genetics speciality providers - aim to optimize efficiency,
increase patient access, and enhance provider satisfaction. This poster outlines the traditional model
of pediatric care at a specific institution, with a workflow involving a genetics trained physician and
genetic counsellor, from pre-clinic preparation to follow up. We then present a workflow model of a
collaborative team consisting of a genetic counselor and nurse practitioner in condition-specific
(neurofibromatosis type 1 and hypermobility) pediatric clinics. We breakdown factors which influenced
successful implementation of this clinic model, including careful patient selection, pre-established and
adaptive clinic goals, and differentiation of roles of the different providers. Potential barriers to
generalized implementation and ongoing success of this clinic model may include access to providers
interested in genetics and the necessity for careful triaging by clinical providers. Formalized analysis of
these clinics has not been performed, though at the presented institution, this clinic model is
recognized as an effective way to decrease wait times for patients referred for specific indications and
creates a work environment that allows providers to specialize, increasing their expertise and
confidence in particular genetic areas.
Genetic counseling and its challenges in Leber Hereditary Optic Neuropathy
Ms Aashita Takkar, Ratna Dua Puri, Renu Saxena
Institution of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Introduction: LHON is a well-characterised genetic disorder caused due to variations in mitochondrial
genome. Individuals with LHON present in second/third-decade with progressive central painless
vision-loss. Common pathogenic variants, m.3460G>A in MT-ND1, m.11778G>A and m.14484T>C in
MT-ND6 are reported in 95% of cases. Reduced penetrance can be observed, which is the result of
mitochondrial mutation load and its interaction with environmental factors. Phenotypic expression is
further influenced by age and gender of the proband. Multiple studies with descriptions of phenotype,
molecular basis and prognosis are reported, however, only few studies illustrate the importance of
genetic counseling and challenges faced during counseling of a patient with LHON.
Aim:
To address the challenges in genetic counseling of a patient diagnosed with LHON.
Study methods: Retrospective review; clinical and molecular data collection.
Literature review of patients with LHON who have m.14484T>C variant in MT-ND6.
Genotype-phenotype correlation.
Explaining the importance of cascade-screening.
Providing genetic counseling to patients keeping above points in mind.
Results: With a clinical diagnosis of LHON, genetic testing was advised for the proband. It identified
the m.14484T>C variant in MT-ND6, confirming the diagnosis. Genotype-phenotype correlation
showed that this variant has better prognosis, with higher incidence of partial visual recovery as
compared to other variants. In post-test genetic counseling, results were communicated, long-term
prognosis of the condition and it's personal implications were discussed. Proband was in denial initially
as there was no family history of any genetic condition. He was distressed thinking how this condition
would affect his job, he being the sole-earning member. Proband was counselled about LHON
support-groups and a rare disease NGO in India with whom he connected. Information on government
policies for employment and allowances for visually-impaired was provided. Cascade-screening was
suggested. There is no risk of occurrence of similar condition in proband's offsprings.
Conclusion: Genetic counseling is in its nascent stages in India, due to which many psychosocial
issues remain unaddressed causing distress in patients. This study highlights the importance of
genetic counseling taking LHON as an example. Cascade-screening, an essential component of
genetic counselling in such families, could not be fulfilled due to lack of physical interaction with family
members amidst COVID-19 pandemic. Due to rarity of mitochondrial conditions, there are no/very few
support-groups available, and patients might end up feeling alone and helpless.
Impact of COVID-19 Pandemic on Genetic Services across Asia

Meow-Keong Thong, MK Thong1, JMH Lee2, H Padmanabhan3, T Sura4, S Faradz5, BR Lakshmi6, VC Dung7,
Y Horiuchi8, PJB Abad9, BHY Chung10, LK Sann11, YH Chien12, PS Lai13, V Keoluangkhot14, H Ishigiuro15,
EM Cutiongco-de la Paz16, WP Ong17, SY Yoon18

1. Genetic Medicine Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia, 2. Genetic Counselling
Asia, Kuala Lumpur, Malaysia, 3.Cancer Research Malaysia, Subang Jaya, Malaysia, 4.Medical Genetics and
Molecular Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand, 5.Faculty of Medicine
Diponegoro University, Semarang, Indonesia, 6.Molecular Diagnostics Counseling Care & Research Centre
(MDCRC), Tamil Nadu, India, 7. Department of Medical Genetics, Vietnam National Children Hospital, Hanoi,
Vietnam, 8. Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science,
Tokyo, Japan, 9. College of Nursing, University of the Philippines, Manila, Philippines, 10. Department of
Paediatrics & Adolescent Medicine, University of Hong Kong, Hong Kong SAR, 11. Department of Anatomy,
Defense Services Medical Academy, Yangon, Myanmar, 12. Department of Medical Genetics and Pediatrics,
National Taiwan University Hospital, Taipei, Taiwan, 13. Department of Paediatrics, Yong Loo Lin School of
Medicine, National University of Singapore, Singapore, 14. Adult Infectious Disease Ward and Wellcome Trust–
Mahosot Hospital–Oxford Tropical Medicine Research Collaboration, Mahosot Hospital, Vientiane, Lao PDR, 15.
Center for Genetic Medicine, Yamanashi University, Yamanashi, Japan, 16. National Institutes of Health,
University of the Philippines, Manila, Philippines, 17. Department of Genetics, Kuala Lumpur Hospital, Kuala
Lumpur, Malaysia, 18. Genetic Counselling Society Malaysia, Subang Jaya. Malaysia

Introduction: Since January 2020, the COVID-19 pandemic has impacted the world in unprecedented ways. Due
to the limited data on how this pandemic has impacted genetic services in the Asian region, we conducted a
survey among genetic providers regionally to document the challenges experienced by them. The Genetic
Counselling Society of Malaysia (GCSM) conducted this survey in collaboration with the Asia Pacific Society of
Human Genetics (APSHG) and the Professional Society of Genetic Counselors in Asia (PSGCA). Methods:
Survey items were first determined by a steering committee upon in-depth literature review. These items were
then subjected to two rounds of revision via a modified Delphi method by a group of content experts comprising
of 6 clinical geneticists and 6 genetic counsellors from GCSM and APSHG. The final survey was sent out to the
members of the three societies. As the pandemic progressed rapidly in some countries, a follow-up qualitative
questionnaire was conducted to investigate further developments in their genetic services 6 months after the
survey. Result: We received complete responses from 101 participants representing 12 Asian countries. The
data was analysed by income categories as defined by the World Bank. In terms of the impact of resources,
majority of participants' workplace from upper- (72%) and lower- (69%) middle countries were converted to
COVID-19 hospitals as compared to 33% from high-income countries. Interruption in patient care was more
likely in middle income countries, such as reduction of staff capacity [OR 5.06 (95% CI 1.38-18.57), P=0.01e]
and disruptions to diagnostic services [OR 10.40 (95% CI 2.77-39.04), P=0.001]. Genetic test uptake in lower-
middle income countries was affected compared to high income countries. [OR 10.00 (95% CI 2.22-45.01),
P=0.003]. More genetic services in lower middle-income countries reported psychosocial issues faced by
patients [50% in high and 77% in lower-middle income countries]. The follow-up questionnaire implemented 6
months after this survey showed that majority of the countries (91%) have pivoted and implemented tele-genetic
counselling in various forms. Middle-income countries continued to face major disruptions to their services but
high-income countries have stabilised and were functioning normally. Discussion: The preliminary data from this
study demonstrated the challenges encountered by the genetic services in Asia which were more pronounced in
the middle-income countries. It has also demonstrated the resilience of these services in establishing new
protocols such as tele-counselling to serve their patients.
The Visiting Professionals Programme in Genetic Counselling: a novel approach to share
learning for the development of genetic counselling internationally.
Dr Vishakha Tripathi, Audrey Dearing, Alice Youngs, Cecilia Compton, Charlotte Tomlinson
Clinical Genetics, Guy's & St Thomas' NHS Foundation Trust
Genetic counselling is a scientific discipline that is in demand both in the UK and internationally. The
genomics revolution has brought into the limelight the genetic counselling skill set and the value it
provides in both the clinical and research spheres. The genetic counselling team at Guy's Hospital, UK
have had a large increase in requests for education and shared learning as well as for consultation to
support pathway development in other clinical services. In order to support international requests
which fall outside the sphere of the National Health Service, and to continue supporting colleagues to
develop genetic counselling expertise across the globe, we have developed a bespoke Visiting
Professionals Programme (VPP) in Genetic Counselling. This allows delegates to immerse
themselves in the NHS and provides a solution to manage these requests in an equitable way without
impacting resources. The package also offers consulting services as an add-on to organisations and
countries that are seeking longer term investments in building their local genetic counselling capacity
and capability. We present some reflections of the VPP development process and some initial
feedback received from our first collaboration with the Thailand Centre for Life Sciences. This work
may be of interest to international colleagues seeking to formalise such relationships with UK based
genetic counselling services.
Perceptions of genetic counselling amongst Maltese non-genetics healthcare professionals
Mr Christopher Vella, Ms. Roberta Rizzo, Dr.Miriam Dalmas
Cardiff University, Mater Dei-Hospital-Malta, Ministry for Health-Malta
Aims - How is genetic counselling perceived amongst Maltese non-genetic medical professionals and
what is understood by the term?
This qualitative research project aimed to understand how Maltese non-genetic healthcare
practitioners define genetic counselling and explore what is understood by the term. The topic of
genetic counselling has never been researched in Malta, and the timing of the study presented a
unique opportunity since the study was conducted before the introduction of a genetic counselling
service, which is expected to occur imminently.
Methods: Participants in this study consisted of experienced registered medical specialists from the
obstetric, neurology, cardiology, and oncology specialties. Data collected through semi-structured
interviews was analysed by using Interpretative Phenomenological Analysis method to identify themes
relating to the research question.
Results: Three major superordinate themes describing the participants' perceptions were identified.
These were: 1. genetic counselling perceived as a distinct speciality, 2. genetic counselling as a
valuable and needed service, and 3. the perception that genetic counselling might encounter barriers
in the Maltese scenario. Each of these themes had several nested themes which had contradictory
aspects, often comparing ideal versus realist expectations.
Conclusion: This study concludes that while the participants' perception of genetic counselling does
not accurately reflect the perception of the term as defined in current literature, the participants all
regarded this service as a positive and needed service and were aware of their own unfamiliarity with
the topic. Apart from providing valuable information on the participants' understanding of genetic
counselling, this study also identifies perceived barriers as well as expectations from such a service.
The findings in this study contribute useful information and recommendations on the most appropriate
strategy for the development of genetic counselling in Malta.
Development of the Professional Standards and the Pathway to Registration and Certification of Genetic
Counsellors in Malaysia

Ms Sook Yee Yoon, Sook-Yee Yoon,1 Suzanah Abd Hamid2, Gaik Siew Ch’ng3, Tiara Hassan4, Wee Teik
Keng5, Juliana Mei Har Lee6, Rifhan Azwani Mazlan7, Winnie Pei Tee Ong5, Sharifah Azween Syed Omar8,
Meow Keong Thong7, Shing Yiing Tiong9

1Genetic Counselling Society Malaysia, 2Sabah Women and Children Hospital, 3Department of Genetics,
Penang Hospital, 4Genetic Counselling Unit, Cancer Research Malaysia, 5Department of Genetics, Hospital
Kuala Lumpur, 6Genetic Counselling Asia, 7Genetics Medicine Unit, University Malaya Medical Centre,
8Department of Paediatrics, Hospital Canselor Tuanku Muhriz, 9Loh Guan Lye Specialists Centre

Introduction: With the advancement of genetic technologies and innovative genetic therapies, more genetic
counselling services are needed to discuss the utility of gene testing and the interpretation of complex results in
an era of precision medicine. Similar to other developed countries, direct-to-consumer genetic testing is
increasing in Malaysia and this may create uncertainties and anxieties among consumers that would require the
support of genetic counsellors to put things into perspective.

The first genetic counselling service was introduced in 1995 in Malaysia and over the past two decades, five
main public clinical genetic services and several private genetic services were introduced. However, this was
insufficient to meet the needs of the 32.6 million population with the unprecedented increase in genetic testing.

Malaysia, with its multi-ethnic, multilingual population requires the development of a local professional training
and registration pathway to increase the number of culturally competent genetic counsellors who can identify
and overcome cultural barriers in genetic counselling through an individualized approach based on their
language or dialects used, culture, religious beliefs, legal and healthcare system.

Building a system for education, training, professional standards and registration Since 2004, several Malaysian
genetic counsellors have been trained for practicum under a Human Genetics Society of Australasia- University
of Malaya Medical Centre collaboration. The Master of Medical Science (Genetic Counselling) programme is
offered locally by Universiti Kebangsaan Malaysia since 2015. This 2-year post-graduate programme, adapted
from international training programmes is designed to prepare students for clinical practice in genetic
counselling. However, graduates from this programme require further clinical training and certification to meet
professional standards.

In 2018, the practising genetic counsellors in Malaysia established the Genetic Counselling Society Malaysia
(GCSM) with the support of four clinical geneticists from the two main public health clinical genetics services.
GCSM, through consultation with different stakeholders, developed a set of localised professional standards and
certification pathway. This was timely as the Allied Health Professions Act came into force in July 2020 in
Malaysia. GCSM has been actively engaging with the Ministry of Health Malaysia which oversees the allied
health professionals and a formal application has been submitted this year for the inclusion of genetic
counsellors under this Act.

Challenges: Due to the pandemic, COVID-19 related issues have taken precedence and as such the application
is awaiting approval. The professional recognition from the Ministry of Health is necessary to develop the
professional standards of genetic counsellors through certification and registration.
Genetic counselling of candidates for gamete donation at a public bank
Dr Celia Azevedo Soares, Ana Rita Soares, Emídio Vale Fernandes, Maria Abreu, Cláudia Falcão
Reis, Ana Maria Fortuna, Natália Tkachenko
Centro de Genetica Medica Jacinto Magalhaes, Centro Hospitalar Universitario do Porto
Introduction: Genetic counseling of healthy candidates is part of gamete donors' selection. We aim to
review the findings of this counseling of a cohort of patients at our public gametes bank.
Methods: Thirty-four male and 64 female candidates had genetic counseling with a medical geneticist
before donation. Of these, one female candidate voluntarily drop-out. Thirty-four males and 63
females performed karyotype and screening for the more common pathogenic variants for CFTR-
related cystic fibrosis and spinal muscular atrophy (SMN1) in the Portuguese population. In addition,
all females also performed Fragile X expansion screening (FMR1). Thirty patients with known or
assumed African ancestry performed hemoglobinopathies screening.
Results: Six patients were withheld from the donation process given their family or personal history
that required further investigation. Of the initial 97 candidates, 15.5% presented anomalous laboratory
results (15/97). Ten patients were carriers for an autosomal recessive disorder - cystic fibrosis (5/97),
sickle cell anemia (3/30), and spinal muscular atrophy (2/97). One female was an FMR1 pre-mutation
carrier (1/63). One female patients presented with triple X mosaicism: 47,XXX[2]/46,XX[50]. Two
patients presented with chromosomal instability of unknown origin. In one patient, a mosaic for the
Philadelphia chromosome was detected, revealing the unexpected diagnosis of chronic myeloid
leukemia.
Conclusions: From a cohort of 97 candidates, 21.7% presented a family/personal history or an
anomalous laboratory result that required additional genetic counseling, stressing the importance of
performing pre-donation genetic counseling in this population.
Situation Analysis for counselling the tribal population of Southern Karnataka, India regarding
Sickle Cell Disease: challenges for prevention and management
Dr Deepa Bhat, Dr. Rathnamma, Dr. Bontha V Babu
Centre for Medical Genomics and Counseling, JSS Medical College, JSS Academy of Higher
Education and Research, Mysore, Karnataka, India
Rationale: Tribal population constitutes 8.6% of India's population, living in unreachable hilly and
forest areas spread across the country. Sickle cell disease (SCD) disproportionately impacts tribal
communities in India. Studies to date have looked at epidemiological and biomedical aspects, with
scant focus on genetic counseling (GC). SCD is an autosomal recessive disease, requires GC to
reduce the disease burden, especially in the prevalent endogamy. The present situation analysis was
aimed to explore the challenges in providing GC to the population of Southern Karnataka, which
houses about eleven different tribal groups.
Methodology: The analysis was conducted by a mixed-method study involving a quantitative
household survey in the local language for individuals (n=1640), in-depth interviews of two tribal
clusters (n=32), SCD affected individuals and their families (n=20), focus group discussions with tribal
leaders (n=48) in H D Kote taluk, Mysore, Karnataka, India through Indian Council of Medical
Research grant [ICMR: No.NTF/SCD/2019/HSR/04]. The survey focused on assessing their
awareness about the disease and the challenges in implementing GC.
Results: Deprivation of primary health care [infrastructure, human resources, and medications] was a
significant concern; hence, seeking counseling care was not a priority. The geographical isolation
made them reach the hospital by walk. Also, a counselor facility is unavailable in these areas. The
education level was low (Illiterate 41.2%, Primary 32.5%, and Secondary education19.4%). 89% of the
respondents had never heard of SCD. They all belonged to the low-income group, with 61.9% did not
have any health insurance [both government and private] with higher out-of-pocket expenditure.
The prevalence of SCD in this population is 1.53%, and carriers were 5.10 %.; however, 89% of the
survey respondents had never heard of SCD. We identified several key factors that would pose
challenges in establishing GC in this indigenous community: different dialects, tribal customs, social
etiquette, interpersonal interactions, and degree of acculturation, etc. For GC to be effective genetic
terms, need to be appropriately explained in their dialect, keeping in mind their reluctance to visit
health care facilities and the specific type of marriage patterns acceptable to them.
Recommendation: Since 20% of the tribal population have received secondary education, a
representative from each cluster can be given GC training and maybe attached to available
government primary health centers to communicate the information in their dialect, respecting their
cultural beliefs.
Awareness and Perception of Genetic Counselling Services and the role of Genetic Counsellor
among Healthcare Providers in Malaysia
Dr Boon Eu Cheah, Ms Tiong Shing Yiing, Dr Ch'ng Gaik Siew
Department of Genetics, Hospital Pulau Pinang, Loh Guan Lye Specialists' Centre
Introduction: Genetic counselling profession is still developing at various stages globally. Despite the
advancement of genetic testing, genetic counsellors lack recognition especially in Asia. Many non-
genetic healthcare providers (HCP) may not realize the importance of genetic counselling as a
prerequisite to genetic testing or face barriers in accessing genetic counselling services.
Objectives: To assess awareness and perception of genetic counselling services, role of genetic
counsellor and barriers encountered by HCP in utilizing the service.
Methodology: A descriptive study using questionnaires via Google Form to HCP in Malaysia.
Results: Out of 155 HCP who participated, 28.2% were Consultants/Specialists in various fields,
26.3% junior doctors , 20.5% nurses and paramedics, 10.3% allied health professionals, 8.3%
pharmacist and 6.4% from other categories. Half of the respondents were from paediatrics followed
by allied health (11.5%) and internal medicine (7.7%). A quarter of respondents had not heard about
genetic counselling and half of them did not know how to access genetic counselling services in
Malaysia. A large majority agreed that genetic testing can reduce recurrence of genetic
diseases(87%) and that genetic diseases can be inherited in a family(95.5%), but a quarter of them
was unaware that genetic testing can be used to test for hereditary cancers. The availability of genetic
counselling services in Malaysia was known to 121 (78%) respondents, but only 26.4% found it easily
accessible. 90% agreed that genetic counselling should be provided by trained HCP as opposed to
any doctors (26%) or psychologists/counsellors (21%). The perception towards the purpose of genetic
counselling services was diverse with majority (>90%) agreed with genetic counsellors' role in
providing risk estimate of having a genetic disorder, education and resources about genetic
conditions, guidance on genetic testing and emotional support. However, two thirds thought that
genetic counselling was to give advise on whether to have children and to help couples with desired
characteristics in their offspring in one-third of respondents. Two-thirds of HCP faced barriers such as
insurance related issues, ethical dilemmas and unclear guidelines regarding genetic testing. One third
was unaware of how to make a referral to genetic counselling services or to decide if the clients need
the services.
Conclusion: Although 75% of non-genetic HCP have heard about genetic counselling services, many
faced uncertainties and obstacles in utilizing the service. To benefit the community at large, more
efforts are needed to increase awareness and improve genetic literacy among HCP in Malaysia.
Parents’ perspectives, experiences and need for support when communicating with their
children about the psychiatric manifestations of 22q11.2 deletion syndrome
Courtney Cook, Caitlin Slomp, Jehannine Austin
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Background: When a genetic condition is diagnosed prenatally or during childhood, parents face
decisions about how to disclose the diagnosis to their affected child. Parents have reported feeling
worried about how to initiate this conversation, the words to use, and their child's understanding. In the
context of 22q11.2 deletion syndrome (22q), the associated 25-30% chance for psychotic illness is a
main concern for many parents. In this situation, parents face decisions about disclosing information to
their child about the 22q diagnosis itself, but also the associated risk for psychiatric illness. Parental
anxiety about, and the stigma that surrounds psychiatric disorders may present as additional barriers
to parents broaching this topic.
Purpose: To develop a theoretical model to explain how parents think about the process of
communicating with their affected child about the psychiatric manifestations of 22q.
Methods: Semi-structured interviews were conducted with parents of children with 22q who had all
received psychiatric genetic counselling. Interviews were recorded, transcribed verbatim, and
analyzed concurrently with data collection, using interpretive description. The first three interviews
were independently coded by two authors. A coding framework was developed and then applied to the
remaining interviews. Identified themes were used to inductively develop a model of how parents think
about communicating with their child about psychiatric risk in 22q. The concept of theoretical
sufficiency (which asks whether the model constructed is adequate in terms of the use for which it was
envisioned) was used to guide recruitment.
Results: The model we developed, from interviews with 10 parents, represents communication of
psychiatric risk in 22q as a process where dynamic contextual factors (perception of risk, the
integration of 22q into the child's identity, desire to normalize, desire to protect, sense of capability,
uncertainty, empowerment and control) act as motivators or barriers to communication. Parents also
described challenges with the content, process and outcome of these conversations. Parents wanted
hands on, practical, personalized, and ongoing support from health professionals around
communication about these issues.
Conclusion: This model may help equip genetics professionals to support families to communicate
effectively with their child in order to improve health outcomes and family adaptation to 22q. These
findings may be generalizable beyond the context of 22q to other genetic conditions where psychiatric
manifestations occur.
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with
suspected genetic disease: Genetic counselling implications
Courtney Cook, Linlea Armstrong, Cornelius F. Boerkoel, Lorne A. Clarke, Christèle du Souich,
Michelle K. Demos, William T. Gibson, Harinder Gill, Elena Lopez, Millan S. Patel, Kathryn Selby, Ziad
Abu-Sharar, CAUSES Study, Alison M. Elliott, Jan M. Friedman
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC,
Canada, BC Children’s Hospital Research Institute, Vancouver, BC, Canada, Division of Neurology,
Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada, Women’s Health Research
Institute, Vancouver, BC, Canada
Purpose: Identifying genetic mosaicism is important in establishing a diagnosis, assessing recurrence
risk, and providing accurate genetic counselling. Next-generation sequencing detects mosaicism at
levels below those detectable by Sanger sequencing. The CAUSES Clinic was a pediatric translational
trio-based genome-wide (exome or genome) sequencing (GWS) study of 500 families. Here we
present twelve cases of mosaicism identified by GWS in the CAUSES cohort.
Methods: Clinical and testing data were abstracted from patient charts. Details regarding how the
families were counselled were summarized from the referring physicians' consult letters. GWS through
the CAUSES study was done on a research basis with clinical confirmation by Sanger sequencing of
variants deemed possibly or definitely causal of a participants' phenotype. Participants were usually
counselled by their referring physician and the CAUSES research genetic counsellor based on the
Sanger sequencing results.
Results: In six of twelve cases, there was no evidence of the mosaicism identified by GWS on Sanger
sequencing. For three families (Family 2,9 and 12), the disease-causing variant found in the child, for
which the parent was identified as mosaic, was not detected by Sanger sequencing in the parent. In
Family 2, the presence of another affected sibling influenced the counselling. For Family 12, the
physician was aware of the parental mosaicism detected by GWS and the family was counselled
accordingly. Family 9 was counselled that the proband was heterozygous for a de novo variant. For
two families, the parental somatic mosaicism identified by GWS was reported as heterozygous by
Sanger sequencing, thereby inflating recurrence risks. In one family, mosaicism in the proband
identified by GWS was reported as heterozygous by Sanger sequencing, which inflated recurrence
risks.
Conclusion: These families demonstrate the importance of considering the possibility of mosaicism
when GWS is performed. Lack of detection of mosaicism on a clinical report can result in
communication of inaccurate estimates of recurrence risks. The communication of GWS results to
referring clinicians in the research setting can permit more accurate genetic counselling. Having the
research genetic counsellor from the GWS study participate in the result sessions can mitigate these
issues. Providing precise recurrence-risk estimates is, however, often difficult or impossible unless
gonadal mosaicism is quantified. Consequently, estimates of recurrence are often broad and can
generate a high degree of uncertainty for families.
Genetic Counsellor-led Helpline Service based in the UK Voluntary Sector: A Service
Evaluation
Ella R Kershaw (1), Emily Clarke 2, Selina Goodman 1, and Leigh Jackson 1
1 University of Exeter Medical School
2 Gene People
In the UK there are approximately 3 million people living with a genetic condition and around 300
practicing genetic counsellors (GCs). With public awareness of genetic disorders increasing and more
genetic testing taking place in a wider range of settings, there is a growing need for guidance and
support for affected individuals and their families. The UK national charity Gene People (previously
known as Genetic Disorders UK) is registered in England and Wales, and supports individuals and
families affected by any type of genetic condition. They have been operating a free GC-led helpline for
seven years. The telephone and email service can be accessed by anyone when questions or
concerns arise and does not require a referral. An independent service evaluation was conducted to
assess how well the helpline service was performing and meeting the needs of its enquirers. Online
surveys and semi-structured telephone interviews were used to collect feedback and impact data from
helpline enquirers in a mixed methods approach. Links to the online Surveys were sent to enquirers by
email or text before any contact with the helpline GC and again following completion of the enquiry.
The pre and post-contact surveys both asked how informed, supported, anxious and confused
respondents were feeling. In-depth interviews with 15 enquirers gathered qualitative data that was
analysed thematically. Themes identified included: Gene People complemented NHS services;
contact with GC helpline made a tangible difference to enquirers; GC qualities were highly valued; lack
of signposting to Gene People; and ease of use of the service. Overall, participants reported feeling
supported and helped by the helpline GC, and felt their concerns were understood. Feeling less
anxious and confused following contact was also suggested by the data. Both the surveys and
interviews showed that participants had positive experiences of the service, with 95% of survey
respondents indicating they would recommend the service to others and almost all interview
participants saying they would contact the service again if needed. This exploratory work suggests
that a GC-led helpline may be able to provide effective support to a broad range of people impacted
by genetic conditions in a manner that complements and supports clinical services. With greater
awareness, increased capacity and developments to help make the service more accessible to
diverse communities, the service could benefit more people and further develop as a key part of the
landscape of supportive care for the whole genetic conditions community.
Genetic counsellors’ perception and readiness for their role in behaviour change
Dr Chris Jacobs (1), Dr Erin Turbitt (1), A/Prof Alison McEwen (1), Dr Lou Atkins (2)
(1) Graduate School of Health, University of Technology Sydney, NSW, Australia
(2) Centre for Behaviour Change, University College London, UK
Background: Completion of the human genome project promised a transformation in health
prevention. Despite clients' oft-cited motivation for genetic testing being to change health behaviour,
there is little evidence that receiving genetic test results leads to behaviour change. To effectively
change behaviour requires a theory driven coordinated set of activities (i.e. behaviour change
techniques BCTs). Genetic counsellors (GCs) are ideally positioned to bridge the gap between pre-
test intentions and post-test behaviours by facilitating behaviour change. However, the extent to which
GCs apply BCTs during genetic counselling and are ready and willing to be more involved in changing
client health behaviours is unknown.
Aim: To explore the views, knowledge and experiences of Australasian GCs about their perceived role
in changing health behaviour and their readiness to facilitate behaviour change.
Methods: Participants were recruited via the Australasian Society of Genetic Counsellors. Five online
focus groups and one interview were conducted with 26 GCs. Verbatim transcripts were analysed
using thematic analysis and mapped to the COM-B model of behaviour change. A logic model was
used to identify the influencers and barriers to GCs' delivery of BCTs, the strategies needed to
facilitate behaviour change, and the influencers and barriers to clients' behaviour change.
Results: Participants were from across Australia, working mainly within clinical genetics departments
in cancer or general settings. The average time since completing training was 10.7 years. Three client
behavioural outcomes of genetic counselling were identified: attend recommended screening/health
appointments, access relevant information and support, and share accurate information with relevant
family members. Some BCTs were evident in GCs' practice, including providing information, equipping
clients with skills and encouraging self-management. Facilitators to GCs delivery of BCTs included
local knowledge, skills to understand and communicate complex information, belief in the role of care
coordinator and perception of the GC role. Barriers included lack of time, capacity, resources and
behaviour change training, judgments about clients' abilities to manage their own healthcare and
beliefs about the directiveness of behaviour change. Barriers to clients' behaviour change included the
ability to understand and assimilate information, resources to attend appointments and prioritisation.
Conclusion: Australasian GCs have many of the capabilities to deliver behaviour change and some
BCTs are evident in practice. Enhancing awareness and knowledge of behaviour change theories and
strategies will assist GCs to effectively change clients' health behaviour. Further research is planned
to develop, implement and evaluate an intervention to facilitate GCs to deliver behaviour change.
Challenges and Opportunities faced in Genetic Counselling of Families with Variants of Uncertain
Significance in India

Ms Deepika Karthik Kumar, Brinda Ramanathan, Sugirdhana Parthiban Ramsait, Siddhitha Jadhav, Uthra
Satagopan, Meenakshi Jandhyala, Govindasamy Kumaramanickavel

Smrthi Health Care, GenVams Trust, Chennai, India

Background: Various strategies to ascertain the pathogenicity of unclassified variants of uncertain significance
(VUS) from a diagnostic and predictive perspective are discussed in this case series.

Methods: Variants in five families were analysed for pathogenicity based on- age of onset; family history; location
and kind of mutation; gene and protein information; clinical correlation with disease mechanism, severity and
penetrance; bioinformatic tools for damage assessment; extensive research on relevant case studies and
research data for inheritance, expression and variable expressivity.

Results and Discussion: The reasons for considering the VUS in the following cases as probably pathogenic are
listed out.

1. [Missense compound heterozygous autosomal recessive variants in ABCA4 gene; Exon 38:
c.5371dupG, pathogenic; Exon 45: c.6193G>C, VUS; 17-year-old female with Stargardt's] Gene variation was in
ABC transporter domain of retinal cells; in-silico predictions- damaging; recessive status confirmed- normal non-
consanguineous parents; early onset; severe. Genetic counselling (GC)- disease progression and marital
options explained.

2. [3' splice site intronic, homozygous autosomal recessive VUS in C1QBP gene, Intron 3: c.478-7T>G; 4-
day-old female] Neonatal death (lactic acidosis); previous child with similar history; correlation with gene
variation in C1QBP causing COXPD33, splice site (canonical) variant at centre of the gene probably affecting
protein structure; parents married endogamously; heterozygous carriers; early onset; Severe. Variant should be
published. GC - Guarded.

3. [Missense hemizygous VUS in GLA gene. Exon 7: c.1196G>C; Fabry's disease; 40-year-old male]
Symptoms corroborated with atypical Fabry's disease; gene variation in exon 7- prone to alterations in Fabry's-
literature. GC- Pharmaceutical company for enzyme analysis and therapy suggested.

4. [Compound heterozygous autosomal recessive VUS in BBS4 gene. Exon 7: c.453_454insGAAC

(p.Asn152GlufsTer15) VUS. Intron 14: c.1248+2T>C. Bardet-Biedl syndrome; 50-year-old female] Splice variant;
BBS4 implicated in ciliogenesis and sorting of membrane proteins to the primary cilia; clinical correlation; in-silico
predictions damaging. GC- Disease progression and testing for children recommended.

5. [Heterozygous dominant missense VUS (2 genes), COL2A1: Exon 50 c.3508G>A. COMP: Exon 11
c.1217C>G; Familial avascular necrosis; 12-year-old-male] COL2A1 encodes for alpha-1 chain of type II
collagen; COMP encodes for non-collagenous extracellular matrix protein; clinical correlation; strong family
history; in-silico predictions damaging. GC- Disease progression and management explained.

Conclusion: Genetic counsellors, can therefore provide improved patient care (guardedly) in the backdrop of
VUS by employing the methodology adopted here. The families could make informed choices by understanding
the disease, its progression and management options. Probands with clinical correlation can be followed up for
variant reclassification.
BRCA-DIRECT: A Digital Information-Giving Model to Expand Cancer Genetic Testing Services in the UK

Mrs. Grace Kavanaugh, Bethany Torr1, Zoe Kemp9,10, Gareth Evans6, 7, Angela George1,9, Ashu Gandhi8,
Subin Choi1, Sophie Allen1, Monica Hamill1, Rochelle Gold2, Emma Poyastro-Pearson3, Chris Jones4, Nicky
Perry4, Stephen Bremner4, Michael Hubank3, Lesley Fallowfield5, Valerie Jenkins5, Clare Turnbull1, 9

1 Division of genetics and Epidemiology, The Institute of Cancer Research, 2 BRCA Journey, 3 Centre for
Molecular Pathology, The Institute of Cancer Research, 4 Brighton and Sussex Clinical Trials Unit, University of
Sussex, 5 SHORE-C, Brighton & Sussex Medical School, University of Sussex, 6 Division of Evolution &
Genomic Sciences, The University of Manchester, 7 Mangen Centre, Manchester University NHS Foundation
Trust, 8 Nightingale & Genesis Breast Cancer Centre, University Hospital of South Manchester, 9 Cancer
Genetics Unit, Royal Marsden NHS Foundation Trust, 10 The Institute of Cancer Research

Germline genetic testing for high-penetrance breast cancer susceptibility genes is an established, powerful
biomarker of cancer risk, yet less than 5% of BRCA1/BRCA2 carriers in the United Kingdom (UK) have been
ascertained at present. Identification of a pathogenic variant in breast cancer patients can enable precision
oncology management and secondary cancer prevention measures. Cascade testing can then afford
opportunities for primary cancer prevention in relatives.

Current delivery models for genetic testing in the UK are unscalable and fail to meet clinical need, particularly in
breast cancer. Genomic sequencing technologies have advanced such that cost, accuracy, throughput, and
turn-around are widely acceptable. However, clinician time remains a limiting resource. The current genetic
consultation model for hereditary breast cancer involves extensive pre-test and post-test counselling. This
laborious system necessitates a strict genetic testing eligibility scheme. Less than 20% of breast cancer patients
in the UK are eligible for genetic testing under current criteria.

Previous work has developed pathways for oncology professionals to undertake genetic testing within the clinic
("mainstreaming"). However, uptake has been low in breast cancer services. Clinician explanations include
overwhelming patient volume, lack of time, complexity of eligibility criteria, and lack of expertise in genetic
counselling.

To address these multifaceted barriers, a novel digital model for rapid, clinically-integrated, clinician-light genetic
testing of BRCA1/BRCA2/PALB2 in breast cancer patients has been developed. The online BRCA-DIRECT
platform guides patients through pre-test and post-test information, and all patients have access to a genetic
counselling hotline. The current study will evaluate the feasibility, acceptability, and safety of this digital pathway
with 1000 breast cancer patients recruited from multiple sites and clinical settings within two major oncology
centres within the National Health Service. It is a randomised study to evaluate non-inferiority of digital
information-giving versus a standard telephone appointment with a genetic counsellor. Measured outcomes
include uptake of genetic testing, patient knowledge (regarding genetic testing for BRCA1/BRCA2/PALB2),
patient anxiety (state, trait, and intolerance of uncertainty), and satisfaction (patient and clinician).

Recruitment began in June 2021, and data from the first approximately 100 patients will be presented.
Additionally, early reflections from the genetic counsellors who answer hotline queries and counsel patients in
the standard arm of the study will be noted.

This digital model, if acceptable, could provide a pathway for allocating limited clinician time more strategically,
thereby expanding genetic services to a greater number of patients with a variety of cancer indications.
Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer
genetic counselling in a low-to-middle income Asian country
Mr Yong Quan Lee, Ms Sook Yee Yoon (1), Ms Nur Tiara Hassan (1), Ms Heamanthaa Padmanabhan
(1), Prof Dr Cheng Har Yip (2), Dr Wee Teik Keng (3), Prof Dr Meow Keong Thong (4), Dr Muhammad
Azrif Ahmad Annuar (5), Prof Dr Nur Aishah Mohd Taib (6), Prof Dr Soo Hwang Teo (1)
(1) Cancer Research Malaysia, Selangor, Malaysia, (2) Sime Darby Medical Centre, Selangor,
Malaysia, (3) Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia, (4) Department
of Pediatrics, Genetic Medicine Unit, Faculty of Medicine, University Malaya Medical Centre, Kuala
Lumpur, Malaysia, (5) Prince Court Medical Centre, Kuala Lumpur, Malaysia, (6) Department of
Surgery, Faculty of Medicine, University Malaya Medical Centre, Kuala Lumpur, Malaysia
With the advent of Poly-ADP-Ribose Polymerase inhibitor (PARPi) therapies, the focus of genetic
testing for breast, ovarian and other cancers has shifted from risk management to treatment decision-
making. This has led to an increase in demand for genetic testing in different cancer settings, including
breast cancer. Due to the shortage of genetic counsellors worldwide, alternative ways of delivering
genetic counselling have been explored. This includes training non-genetics healthcare professionals
(NGHPs) to provide genetic counselling, otherwise known as mainstreaming. Mainstreamed breast
cancer genetic counselling carried out in countries such as the United States, Canada, United
Kingdom, Norway and Australia have reported increased access to genetic services, reduced waiting
times and positive patient outcomes. However, little is known about the feasibility of adopting such
delivery models in healthcare settings with insufficient specialists for essential services and where
population health literacy is low. In this study, we evaluated the attitudes, considerations and self-
efficacy of oncologists, breast surgeons and general surgeons in mainstreaming breast cancer genetic
counselling in Malaysia, a middle-income Asian country with universal healthcare system. We
developed a 32-item survey via a modified Delphi method which was then distributed via a purposive
and network sampling approach. A total of 21 oncologists and 32 surgeons responded to the survey.
While 77% of respondents expressed interest in providing breast cancer genetic counselling, 85%
preferred to refer patients directly to genetic services for genetic counselling and testing. The main
considerations for mainstreaming were the cost of genetic testing and PARPi therapy, as well as the
availability of professional site support. Respondents also reported a lack of confidence in
communicating genetic risk, particularly to patients with poor health literacy. Other training needs
included communicating information about non-BRCA breast cancer susceptibility genes, interpreting
and communicating findings from genetic test reports and the clinical management of patients with
variants of uncertain significance. Our results suggest that access to risk management for cancer
patients and at-risk relatives may be the mainstay of mainstreaming in low-to-middle income countries
like Malaysia, and highlight the urgent need to train more NGHPs in providing breast cancer genetic
counselling and testing to successfully increase access of genetic services in these low-resource
settings.
Exploring the boundaries of genetic counselling: A case study in intensive care
Ms Fiona Lynch, Belinda McClaren, Amy Nisselle, Clara Gaff
Australian Genomics Health Alliance, Murdoch Children’s Research Institute, The University of
Melbourne
Rapid genomic sequencing (rGS) is being established as a first-tier diagnostic test for critically unwell
infants and children across Australia and internationally. However, the delivery of this new technology
in this setting presents unique challenges for genetic counselling due to the rapid timeframe and
heightened emotional states of parents. In Australia, delivery of this service currently brings together
professionals from both genetics and intensive care, raising questions about the roles and boundaries
of each discipline.
We therefore applied a longitudinal, qualitative study design to explore the evolution of genetic
counselling practice in the Australian intensive care setting. Semi-structured interviews were
conducted with 30 parents, 16 genetic counsellors and four intensive care physicians involved in
delivering rGS in intensive care. Interviews were audio-recorded, transcribed, and analysed using a
combination of thematic and content analysis.
Interviews revealed evolving multidisciplinary genetic counselling practice in intensive care. While
there were initial challenges, both disciplines reported benefiting from workplace learning, facilitating
the movement towards truly integrated practice. Intensive care physicians and genetic counsellors
described working together during pre-test counselling to support parents' informed decision making
about rGS, however some parents' experiences suggest their decision-making needs are not being
met. Irrespective of the outcome of rGS, both parents and health professionals recognise that families
need post-test support for a variety of reasons. However, participants reported that current ad hoc
processes for follow up leave some parents feeling uncertain and unsupported.
These findings show that while multidisciplinary teamwork is crucial for the patient-centred delivery of
this technology in this new setting, there are still challenges which need addressing. Pre-test
counselling practices of both disciplines are still putting undue pressure on parents to consent to rGS,
and a wide range of parents' post-test needs are not being met. Further work is needed to enhance
multidisciplinary genetic counselling in this context to better support patients and families.
This study demonstrated maturation in the delivery of rGS over recent years and provides insight into
the future delivery of genomic medicine in intensive care. Findings may also be extrapolated to other
contexts; the intensive care setting is just one example of where it is not only genetic counsellors who
are and will be responsible for genetic counselling. Other health professionals also have an essential
role to play in supporting parents' informed decision making and meeting their post-test needs, further
extending the boundaries of genetic counselling and genetic counsellors in genomic medicine.
Development and use of the Australian Reproductive Genetic Carrier Screening Decision Aid
Dr Belinda McClaren, Emily King(1,2,3,6), Jane Halliday(3,5), Alison D. Archibald(3,4) Martin Delatycki(3,4,6),
Kristine Barlow-Stewart(7), Ainsley J Newson(1,8), Belinda J McClaren(1,2,3,6)

(1)Australian Genomics Health Alliance, Melbourne, VIC, Australia; (2)Genomics in Society, Murdoch Children’s
Research Institute, Melbourne, VIC, Australia; (3)Department of Paediatrics, The University of Melbourne, VIC,
Australia; (4)Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia;
(5)Reproductive Epidemiology, Murdoch Children’s Research Institute, Melbourne, VIC, Australia; (6)Bruce
Lefroy Centre for Genetic Health, Murdoch Children’s Research Institute, Melbourne, VIC, Australia; (7)Northern
Clinical School, Faculty of Medicine and Health, University of Sydney, Australia; (8)University of Sydney, Faculty
of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, NSW, Australia

Background: Research and policy statements by professional bodies recommend that reproductive genetic
carrier screening (RGCS) be offered to all women and couples, regardless of family history or ethnicity, to
provide information on the chance of going on to have a child with a genetic condition. "Mackenzie's Mission"
(MM) is an Australian RGCS study, evaluating the offer of couple-based screening for approximately 1300 genes
associated with around 750 serious autosomal and X-linked recessive childhood-onset conditions (Kirk et. al,
2021). Each member of the couple makes an individual decision about RGCS while both members provide
consent. The screening test will only proceed once both members have provided consent. A key challenge in
delivering RGCS is ensuring that those offered screening have the opportunity to make an informed decision
about accessing screening. We developed a decision aid (RGCS-DA) to support informed decision-making in
MM, suitable for couples who were either non-pregnant or in early pregnancy.

Decision aid development and piloting: A Delphi approach invited experts from a range of backgrounds to review
values statements related to various concepts of RGCS. Three review rounds were completed, seeking
consensus for relevance and clarity of statements, incorporating recommended modifications in subsequent
iterations. The final RGCS-DA contains 14 statements that achieved Delphi consensus plus the attitude scale of
the multidimensional measure of informed choice (Marteau et. al, 2001). This was then evaluated in cognitive
talk aloud interviews with potential users to assess face and content validity. Minimal wording changes were
required at this stage. After this process, the RGCS-DA was piloted with 15 couples participating in MM who
were then interviewed about their decision-making. The RGCS-DA prompted discussion within couples and
facilitated in depth consideration of screening. There was reassurance when values aligned and a sense of
shared decision-making. Since November 2019, 8,802 (83.8%) individuals have used the RCGS-DA in the MM
study; analysis of the use of RCGS-DA in decision-making is ongoing and will be evaluated alongside decisional
conflict and decisional regret in our longitudinal study design.

Conclusions: These findings show that the RGCS-DA complements education and counselling processes by
encouraging greater consideration of and reflection on screening outcomes and facilitates both individual and
collective or relational decision making within the context of a couple-based screening approach. This RGCS-DA
may become a useful tool in supporting couples' decision making and make RGCS feasible for scaled-up
implementation by complementing limited resources of face-to-face pre-test counselling.
Preparing a new genomics workforce: The Master of Genomics and Health Internship program
Dr Belinda McClaren, Belinda McClaren(1,3), Sharon Lewis(1,3), Lyndon Gallacher(1,2), Jan
Hodgson(1,3)
(1)Department of Paediatrics, The University of Melbourne, (2)Victorian Clinical Genetics Service,
Melbourne, Australia, (3)Murdoch Children’s Research Institute, Melbourne, Australia
Advances in genomic technology are facilitating implementation of genomic medicine into healthcare
settings internationally. Genomic information can guide diagnostic and clinical decisions, yet
challenges remain to maximize the potential benefits of genomics within healthcare settings.
Workforce has been highlighted as one of these challenges. A recent survey of the clinical genetics
workforce in Australia identified that the current workforce capacity was likely to be inadequate to meet
demand (Nisselle et al., 2019). In Australia, the National Health Genomics Policy Framework has the
development of a skilled and genomics-literate workforce as a strategic priority for the implementation
of genomic medicine.
The Master of Genomics and Health, offered by the University of Melbourne, Australia is a new
program which aims to train graduates skilled in advanced clinical genomics, variant curation,
communication, ethics & psychosocial aspects of genomics, and research. With a blended-learning
approach of self-paced online learning and synchronous tutorials, the program also allows the
flexibility of elective subject choices to suit individual interests. The program is a two-year Masters and
has a nested suite offering a Graduate Certificate (6 months) or a Graduate Diploma (12 months).
The capstone of the Masters is a second-year internship program. Students complete two 20-day
internships at organizations relevant to genomics and health. On internship, students apply their
advanced coursework knowledge to real-world implementation of genomics in health by working on
projects that add value to the organization. Here we will present a synthesis of the internships
undertaken by 16 students in 2020 & 2021 and describe outcomes for the organizations and the
students.
Graduates are employed in positions such as genomic project officers, data scientists and research
assistants with some planning to undertake a research higher degree (PhD). With a skillset that
addresses the junction of clinical and laboratory genomics, graduates of the Master of Genomics and
Health are uniquely positioned to contribute to the implementation of genomics into healthcare and
could fill some of the gaps of the genomic workforce.
An ethical analysis of divergent clinical approaches to the application of genetic testing for
autism and schizophrenia
Ms. Emily Morris, Michael O’Donovan, Alice Virani, Jehannine Austin
University of British Columbia, Department of Psychiatry, Vancouver, BC, University of British
Columbia, Department of Medical Genetics, Vancouver, BC, Cardiff University, Division of
Psychological Medicine and Clinical Neurosciences, Cardiff, Wales, Provincial Health Services
Authority of BC, Ethics Service, Vancouver, BC
Genetic testing to identify genetic syndromes and copy number variants (CNVs) via whole genome
platforms such as chromosome microarray (CMA) or exome sequencing (ES) is routinely performed
clinically, and is considered by a variety of organizations and societies to be a "first-tier" test for
individuals with developmental delay (DD), intellectual disability (ID), or autism spectrum disorder
(ASD). However, in the context of schizophrenia, though CNVs can have a large effect on risk, genetic
testing is not typically a part of routine clinical care, and no clinical practice guidelines recommend
testing. This raises the question of whether CNV testing should be similarly performed for individuals
with schizophrenia. Here we consider this proposition in light of the history of genetic testing for ID/DD
and ASD, and through the application of an ethical analysis designed to enable robust, accountable
and justifiable decision-making. Using a systematic framework and application of relevant bioethical
principles (beneficence, non-maleficence, autonomy, and justice), our examination highlights that
while CNV testing for the indication of ID has considerable benefits, there is currently insufficient
evidence to suggest that overall, the potential harms are outweighed by the potential benefits of CNV
testing for the sole indications of schizophrenia or ASD. However, although the application of CNV
tests for children with ASD or schizophrenia without ID/DD is, strictly speaking, off-label use, there
may be clinical utility and benefits substantive enough to outweigh the harms. Research is needed to
clarify the harms and benefits of testing in pediatric and adult contexts. Given that genetic counseling
has demonstrated benefits for schizophrenia, and has the potential to mitigate many of the potential
harms from genetic testing, any decisions to implement genetic testing for schizophrenia should
involve high-quality evidence-based genetic counseling.
Integration of genomic testing in mainstream healthcare: lessons from oncology
Dr Rosie O Shea, Rosie O’Shea1, Nicole M. Rankin1, Maira Kentwell 2,3, Margaret Gleeson4,
Katherine M Tucker5, Heather Hampel6, Natalie Taylor1,7, Sarah Lewis1
1 Faculty of Medicine and Health, University of Sydney, NSW, Australia, 2 Parkville Familial Cancer
Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Parkville, Victoria, Australia,
3 Department of Oncology, Royal Women’s Hospital Parkville, Victoria, Australia, 4 Hunter Family
Cancer Service, Newcastle, NSW, Australia, 5 Hereditary Cancer Clinic, Prince of Wales Hospital,
Sydney, NSW, Australia, 6 Division of Human Genetics, Department of Internal Medicine, The Ohio
State University Comprehensive Cancer Center, Columbus, OH, U.S., 7 Daffodil Centre, The
University of Sydney, a joint venture with Cancer Council NSW
Background: 'Mainstreaming' is a proposed strategy to integrate genetic testing into oncology
services, enhancing the identification of hereditary cancer and overcoming the barriers of genetics
referral and clinician awareness. Mainstreaming implementation research is required to inform health
system intervention design and sustainability of routine genetic testing as part of patient care in
oncology and beyond.
Aims: Our exploratory sequential mixed methods study design sought to identify health system
interventions and implementation factors for mainstreaming genetic testing in oncology. The study
outcomes will be used to draft an oncogenomics mainstreaming model.
Methods: A cyclical design of two phases using the Consolidated Framework for Implementation
Research (CFIR) allowed the qualitative implementation data to identify the pertinent attributes to be
included in the quantitative survey. The qualitative interview study was conducted in 2019 and
analysed using the grounded theory methods of coding and constant comparison to identify themes
encompassed within the data. The survey study was conducted from April to September 2020 and
descriptive analysis was undertaken to assess CFIR implementation factors. Theory-informed
implementation data was collectively mapped to the Genomic Medicine Integrative Research
framework.
Results: The qualitative phase had 22 participants from 12 health organisations. The quantitative
survey had 198 responses: 26% were genetic health professionals, 66% oncology health
professionals and 8% pathologists. The relative advantage and clinical utility of mainstreaming to
improve genetic test access and to streamline care were identified. Optimization of current process
was recognized for results delivery and follow up. The barriers identified focused on funding,
infrastructure and resources, and the need for process and role delineation for mainstreaming
programs. Recommended interventions included improved communication and collaboration between
specialties, embedded mainstream genetic counsellors, electronic medical record genetic test
ordering, with centralized results tracking systems and development of dedicated resources. These
findings have been published in the international literature.
Conclusions: The study outcomes regarding health system implementation factors have been used to
inform the development of a draft oncogenomics mainstreaming model (currently in development).
Implementation and evaluation of this model is required to inform future mainstreaming initiatives and
can translate to other disease contexts.
Additional findings – what do parents want from decision aids?
Akhila Palekar, Dr. Melissa Martyn, 1,2,3
Dr. Amy Nisselle 1,2,3
Dr. Ling Lee 1,2
1, Murdoch Children’s Research Institute, Melbourne, Australia
2, Department of Paediatrics, University of Melbourne, Melbourne, Australia
3, Melbourne Genomics Health Alliance, Melbourne, Australia
Diagnostic genomic sequencing presents an opportunity to search for 'additional findings': variants
associated with conditions unrelated to the original purpose for testing. As such, analysis for additional
findings analysis can be considered 'opportunistic screening'. Research into supporting informed
decision making for additional findings, without placing greater demand on current genetic counselling
resources, is needed. Decision aids (DAs), used in screening settings, could be used to clarify
attitudes to additional findings and help elucidate a decision. To date, additional findings DAs have
largely been developed in the adult cancer setting. It is unknown how these DAs would perform in a
paediatric setting. This study aimed to investigate parents' decision-making experiences with two
additional findings DAs: Genetics ADvISER and Optional Results Choice Aid (ORCA).
We conducted semi-structured 'think aloud' interviews with parents whose child had a genomic test
from 2016 to 2019. Parents were randomly allocated to a modified version of either Genetics
ADvISER (n=7) or ORCA (n=6) and interviewed while they used either DA. Participants were asked to
use the DA in the context of a hypothetical decision to receive additional findings for themselves, their
child, and couples' carrier results. Interview transcripts were analysed using deductive and inductive
content analysis informed by a usability testing framework and decisional needs constructs.
Participants largely reported the DAs were usable (content was useful and clear). Participants
commented that non-genetic considerations such as insurance were sufficiently addressed, and
further content was needed in areas such as implications for familial communication. Participants also
identified genetic considerations, including the need to further clarify the conditions included in
additional findings analyses. Decision making was also predicated on the recipient of additional
findings, as additional consideration was required for roles of the child, the parent, and the family in
decision making. Participants' opinions were divided on whether either DA resolved decisional conflict
for receiving additional findings. Participants often did not view either DA as a stand-alone tool, rather,
the DAs were seen as a useful starting point to complement genetic counselling.
Parents continue to show interest in additional findings and the DAs were largely received positively.
These results identify areas for further DA development to support parents' informed decision making
when deliberating on additional findings. Further investigation in conjunction with genetic counselling,
and for non-hypothetical decision making, is warranted with other parental cohorts to understand the
usefulness of these DAs for the paediatric context.
Developing a national newborn genomes programme
Miss Amanda Pichini1, Mathilde Leblond1, Christine Patch1, Alice Tuff-Lacey1, Simon Wilde1
1 Genomics England, London, United Kingdom
The transformative potential of whole genome sequencing (WGS) in healthcare has been
demonstrated by initiatives including the 100,000 Genomes Project and is now offered to certain
patients in the National Health Service (NHS) in England. Building on these foundations, the utility of
WGS for newborn screening can be investigated to identify a larger number of rare and actionable
conditions than currently screened for, enable research to further develop diagnostics and treatments,
and explore the potential of a lifetime genomic record. This has significant implications for genetic
counsellors who are central to the effective implementation of genomic medicine as their role
continues to evolve.
Genomics England is working in partnership with NHS England and other healthcare, patient and
public interest groups to build a vision for a national programme which would involve an initial pilot and
evaluation prior to integration into clinical care. As this raises a number of practical and ethical
implications, it is imperative that a collaborative and evidence-based approach is used to design a
programme that can evaluate the feasibility of WGS in newborns and the impact for families, the
healthcare system and wider society. The programme vision and principles are being developed
through an iterative co-design process that has included a Sciencewise public dialogue with 133
participants, 15 expert stakeholder interviews, and creation of an NHS steering group. Recordings of
the dialogue sessions and stakeholder interviews were analysed using grounded theory methodology.
This initial engagement has demonstrated clear support for WGS in newborns amongst healthcare
professionals, communities supporting those with genetic conditions and the general public. The
sessions and interviews highlighted six emergent themes: the potential and limitations of WGS as a
screening tool; a sustainable and scalable programme for NHS staff; co-developed principles for
including conditions; person-centred consent across screening, research and reanalysis; a supportive
and inclusive experience for all families; and future-proofed genome storage and usage. These
themes will inform key areas to focus on when developing and testing the pilot, and will be further
explored through continued engagement with healthcare professionals, bioethics experts, patient
groups and the public. Importantly, genetic counsellors' leadership and unique skills in education,
communication and enabling adaptation to genetic information will be crucial to each of these themes
and to the development of genomics in newborn screening.
Pilot study on the landscape of international telehealth: a new service delivery model
Mrs. Smita Rao, Arpita Neogi, MS,LCGC & Melanie Hardy, MS, LCGC
International Special Interest Group (ISIG) & Lab-Industry Special Interest Group (LI-SIG) of the
NSGC
The most common question received by members of the International Special Interest Group (ISIG) of
the National Society of Genetic Counselors (NSGC) between 2012 and 2019 was about finding
genetic counseling providers for clients in different countries. In the last year, the questions from
genetic counselors have increasingly shifted from being about finding a genetic counselor in another
country, to being about providing patient care services via international telehealth. There are currently
no published data providing specific guidance on how to approach international telehealth for genetic
counseling. A review of past communications via emails and listserv discussions found that a
conservative estimate of the number of messages received on this topic was <1 per month between
2018 and 2020, increased to 2-3 per month from ~August 2020. These questions are received by the
ISIG, Laboratory and Industry SIG (LISIG), and the Licensure subcommittee of the Access and
Service Delivery (ASD) Committee. We report on a survey conducted for the ISIG and LISIG
membership in September of 2020 to identify what questions genetic counselors had about providing
international telehealth, which countries clients are usually from, and what resources are needed for
the provision of international telehealth. We received 45 de-identified responses over a period of two
weeks. Results of this pilot survey indicated that a majority (n= 34/45, 76%) of respondents have
received requests to provide genetic counseling via international telehealth. While only a small number
of respondents (n=13/45, 28.9%) reported seeing a patient using this service delivery model, most
(n=33/45, 73.3%) had questions about the legality of providing this service, the feasibility, the specific
regulations pertaining to international telehealth service delivery, institutional barriers and facilitators to
implementing such a service, credentialing requirements, and billing issues. Mexico, China, and
England were the most commonly reported countries for client location. A central theme identified was
the lack of guidance on this topic and the limited scope for employers to navigate these questions. We
postulate that this is an emerging service delivery model and there is a need for the identification of
organizations and genetic counselors involved in international telehealth who may be able to provide
valuable insight into the implementation of international telehealth.
Challenges in genetic counselling of females with X-linked intellectual disability: A case report
Mrs Lakshmi Priya Rao, Dhanya Lakshmi Narayanan, Anju Shukla
Kasturba Medical College, Manipal Academy of Higher Education, Manipal
Introduction: X-linked intellectual disability (XLID) syndromes are a heterogenous group of disorders.
Phenotypic expression of XLID variants ranges from dominant inheritance pattern with a severe
phenotype in females to truly recessive conditions with no phenotype in carrier females.
Case report: A four-year-old female, firstborn to non-consanguineous healthy parents presented with
global developmental delay, attention deficit hyperactivity disorder, and facial dysmorphism. Her motor
milestones were mildly delayed, whereas speech and language milestones were limited to bisyllables.
She was noted to have hypertelorism, low set years, prominent metopic suture, low anterior hairline,
long philtrum, thin vermillion of the upper lip, bilateral pes planus, and hyperactivity. Magnetic
resonance imaging of the brain done at 2-years and 11-months was normal.
Genetic testing and results: Exome sequencing revealed a known pathogenic variant c.346C>T
p.Arg116Trp in exon 4 of NAA10 known to cause Ogden syndrome in her. Segregation of the variant
in the parents is under process. Chromosomal microarray (Affymetrix CytoScan 750K array, Santa
Clara, California, United States) revealed an 86kb gain on Xq28 (chrX:154032053-154117689;
Grch38) involving part of exon 1, entire exon 2, and part of exon 3 of MECP2. Multiplex dependent
probe amplification (MLPA) confirmed this duplication to be inherited from the unaffected mother. X
chromosome inactivation pattern determined by methylation analysis of the AR gene, showed skewed
X inactivation pattern in the proband with abnormal X chromosome being preferentially active and
normal X inactivation in the mother.
Discussion and conclusion: The variant c.346C>T observed in the proband is previously reported in
one male and two females with severe intellectual disability. MECP2 duplication syndrome (MDS) is
caused due to interstitial duplication at the Xq28 region involving MECP2. Phenotypes in females may
vary from the absence of clinical features to severe phenotypes like that of affected males. The
severity of clinical features varies many times and even could not be explained and correlated with the
X inactivation pattern observed in peripheral blood. The contribution of inherited MECP2 duplication to
the proband's phenotype remains uncertain and difficult to dissect in presence of another pathogenic
variant. Further, the above scenario poses a significant challenge in determining the risk of recurrence
and subsequent prenatal testing in the family.
Developing a Core Outcome Set for Reproductive Genetic Carrier Screening: A New Approach to
Understanding Outcomes in Genetics

Ebony Richardson, Alison McEwen1, Toby Newton-John1, Karine Manera2, Ashley Crook1, Chris Jacobs1

1. The University of Technology Sydney, Graduate School of Health, 2. Sydney School of Public Health, The
University of Sydney

Background: Limited guidance exists regarding outcomes to assess in genetic counselling and genetic testing
research, resulting in diverse approaches across the literature. Variability in outcomes, measurement methods
and research approaches in reproductive genetic carrier screening (RGCS) impact translation of research
findings into practice and contribute to a lack of evidence-based practice recommendations. The Core Outcome
Development for Carrier Screening (CODECS) study proposes a core outcome set, an agreed minimum set of
outcomes that should be measured in all studies on a particular topic, to address these issues.

Aim: Initial stages of this study aimed to i) review existing knowledge and ii) explore patient stakeholders'
experiences to develop a 'long list' of outcomes to consider for inclusion in a core outcome set.

Methods: We conducted a sequential systematic review of outcomes. Medline, EMBASE, PsycINFO and
CINAHL were searched for published studies offering RGCS. For quantitative studies, outcomes, measurement
method and time point were extracted. For qualitative studies, quotations and themes were extracted verbatim
and a deductive analysis conducted to code excerpts as research outcomes. Outcomes were grouped into
domains and mapped to an overarching taxonomy, with domains compared between quantitative and qualitative
studies.

Semi-structured interviews were conducted with individuals and couples who have accessed RGCS. To recruit
an international and diverse sample of patients with a range of experiences, an advertisement was circulated
through social media channels and parenting forums. Drawing on the principles of co-design and nominal group
techniques, outcomes of importance to patients were elicited. A narrative synthesis utilising content analysis was
performed.

Results: 163 outcomes grouped into 27 outcome domains were identified in the sequential review. Sixteen
domains were represented in both quantitative and qualitative studies. Eight domains were identified in
quantitative studies only. Three domains were identified in qualitative studies only; goals of pre- and post-test
genetic counselling, acceptability of further testing and alternative reproductive options, and perceived utility of
RGCS.

Interviews supported outcomes identified in the qualitative review, providing richer detail regarding how
outcomes are perceived by patients.

Discussion: The 'long list' of outcomes identified represents those previously assessed in quantitative research
and newly identified outcomes of importance to patients. These findings will inform the development of a
modified Delphi survey to refine this list and define a core outcome set. This novel application of core outcome
set methodology to RGCS will assist in ongoing efforts to define outcomes of genetic testing and genetic
counselling broadly.
Relationships Between Outcomes of Psychiatric Genetic Counseling and Time Since Onset
and Diagnosis of Psychiatric Illness
Ms Sarah Saxton, Angela Inglis; UBC Depts of Psychiatry and Medical Genetics
Emily Morris; UBC Depts of Psychiatry and Medical Genetics
Laura Hercher; Sarah Lawrence College
Jehannine Austin; UBC Depts of Psychiatry and Medical Genetics
Sarah Lawrence College, UBC Depts of Psychiatry and Medical Genetics

BACKGROUND: Research shows that psychiatric genetic counseling (pGC) improves outcomes for
patients. To optimize outcomes for recipients of pGC, it is important to understand how facets of
service delivery relate to outcomes. One factor with the potential to influence how much a patient
benefits from pGC is the length of time that elapses between the onset of symptoms, or receipt of a
psychiatric diagnosis and receiving pGC. To date, no studies have evaluated relationships between
these variables. METHODS: We conducted a retrospective chart review study to examine the
relationship between outcomes of pGC and time since onset and/or diagnosis of psychiatric illness at
a specialist pGC clinic. Specifically, we examined change in empowerment scores (as measured by
the Genetic Counseling Outcome Scale (GCOS) prior to (T1) and approximately one month after the
pGC appointment (T2)), in relationship to: a) time since symptom onset (TSO) and b) time since
psychiatric diagnosis (TSD). Linear regression was used to determine the relationship between TSO
and/or TSD and GCOS change, and paired sample T-test was conducted to assess the changes in
pre- and post-pGC scores. RESULTS: Charts for 271 patients with personal histories of
schizophrenia, schizoaffective, bipolar, depression, obsessive compulsive and eating disorders were
included in the study. Most were women (80.0%, n = 216) and the mean age was 39.9 years old. TSO
ranged from 0 to 62 years (mean = 19.6). TSD ranged from 0 to 43 years (mean = 11.1). There was
no relationship between TSD and GCOS change (p = 0.234, R2 = 0.015). A weak negative
relationship was observed overall between TSO and GCOS change (p = 0.032, R2 = 0.019). When
the data were examined by psychiatric diagnosis, this result was significant only for depression (p =
0.013, R2 = 0.037), which was also a weak relationship. Overall, empowerment improved after pGC
regardless of TSO/TSD (p < 0.0001, d = 1.11). CONCLUSION: The data suggests that earlier TSO
plays a minimal role in maximizing the positive impact of pGC for patients with a personal history of
psychiatric illness. While there may be some benefit for patients accessing pGC early after symptom
onset, patient empowerment levels increase after pGC regardless of TSO/TSD.
Sitting on the fence: Challenges in remaining neutral whilst imparting risk information
Dr Megan Scott, Professor Jennifer Watermeyer, Dr Tina-Marie Wessels
1 The Health Communication Research Unit (HCRU), School of Human & Community Development,
Faculty of Humanities, University of the Witwatersrand, Johannesburg, South Africa
2 Division of Human Genetics, Department of Pathology, Faculty of Health Science, University of
Cape Town, Cape Town, South Africa.
Genetic specialists help patients to find meaning in uncertain genetic risk situations, to understand
complex medical information, and to make autonomous, informed decisions. Despite several genetic
counselling goals described in the literature, how these goals are achieved remains less known,
including how to remain neutral when imparting risk information. There is also limited interactional
research focusing on the process of genetic counselling within diverse settings. South Africa offers a
unique opportunity to understand genetic counselling practice due to its language and cultural
diversity, as well as social, political, and historical context.
This qualitative exploratory study focused on risk and uncertainty communication in public genetic
clinics in Cape Town, South Africa. Data comprised 18 video-recorded patient-genetic specialist
consultations, 12 genetic specialist interviews and researcher field notes. Analysis drew on a blended
sociolinguistic approach using principles of conversation analysis and theme-orientated discourse
analysis. Thematic analysis was used for the talk-extrinsic data. Results were triangulated to provide a
holistic understanding of the research topic. For this paper, the prenatal genetic counselling data is
used to highlight the complexity of imparting risk information and facilitating decision-making
surrounding invasive genetic testing, whilst simultaneously remaining neutral.
Results show that risk is understood both from a subjective and an objective perspective. Genetic
specialists are aware of the ideal to remain neutral, however, maintaining a neutral stance in actual
practice remains challenging. Genetic specialists oscillate between direct and non-direct forms of
communication to balance playing a supportive role to the patient, managing their own risk perception,
and remaining within the ideological boundaries of their profession. Even though a genetic specialist
may assume that they are remaining neutral, analysis of the interactions from this study suggests
otherwise. Direct advice seeking from patients may further exacerbate the challenge of remaining
neutral, especially when risk perceptions differ.
In conclusion, imparting risk information whilst remaining neutral is difficult. Risk perceptions impact
not only on how risk is understood, but also how it is conveyed to patients. Findings from this study
add to previous literature on issues of neutrality in genetic counselling, suggesting that genetic
counselling practice may be more directive than suggested in theory. Further exploration of genetic
counselling communication is needed, especially within diverse contexts, to better understand and
enhance the profession's guidelines around communication approaches. Additional research on this
topic may enhance care for patients and provide improved support for genetic specialists whilst
navigating this tricky area of genetic counselling.
Describing the process of integrating a genetic counsellor into a multidisciplinary primary care
clinic: the Stepwise Process of Integration
Ms. Caitlin Slomp, Emily Morris, GenCOUNSEL Study, Morgan Price, Alison M. Elliott, Jehannine
Austin
University of British Columbia
Introduction: Genetic services are typically accessed through referral to specialist clinics, which can
present significant access barriers. Theoretically, primary care is an ideal setting in which to integrate
timely, lower barrier genetic services into patient care; however, the majority of primary care
physicians lack genomic expertise. Embedding genetic counsellors (GCs) within primary care could
address these issues, but little is known about the process of integrating GCs into this context.
Objectives: To understand and describe the process of integrating a GC into a multidisciplinary
primary care setting from the perspective of existing members of the team. Specifically, we aimed to
qualitatively explore the perceptions, attitudes and reactions of staff and clinicians prior to, and after
the introduction of a GC into a primary care clinic.
Methods: We purposively recruited members of a multidisciplinary primary care team in Victoria,
British Columbia (BC), Canada into which a GC was being embedded. Semi-structured interviews
were conducted via videoconference immediately prior to (T1), and nine months after (T2) the GC
joining the clinic. Interviews were recorded, transcribed verbatim and analyzed concurrently with data
collection using interpretive description.
Results: Twenty-four interviews were conducted with 17 participants over the two timepoints (13 at T1,
11 at T2). The Stepwise Process of Integration model was constructed from the data, in which
participants described several distinct, progressive stages of interaction with the GC: Disinterest or
Resistance, Pre-Collaboration, Initial Collaboration, and Effective Collaboration/Integration of the GC
into the team. At each stage, specific needs had to be met in order to advance to the next stage of
collaboration with the GC. A variety of barriers and facilitators attended movement between different
stages of the model, including numerous logistical and Covid-19-specific barriers that were not tied to
any one stage and context-specific barriers caused by the simultaneous opioid crisis in BC. At T2,
many participants remained in the Initial Collaboration stage due to Covid/opioid crisis barriers and
unmet needs, though several participants reached the Effective Collaboration stage.
Conclusion: The Stepwise Process of Integration model describes the process through which primary
care staff and clinicians integrate a GC into their practice. Specific needs, barriers and facilitators were
identified in each stage, which can be used to facilitate more effective integration in other primary care
settings.
Novel and emerging disorders: Pioneering parents confront new challenges
Miss Bethany Stafford-Smith, Marion McAllister, Jennifer Sullivan, Nicole Walley, Vandana Shashi and
Allyn McConkie-Rosell
Duke University and Cardiff University
Genomic Sequencing is uncovering novel molecular diagnoses due to newly identified disease genes;
there is minimal published information about these conditions and few others share the same
diagnosis. Little is known about how parents manage and react to these types of diagnoses. To
address this gap in knowledge, we explored the parental experience of receiving a novel or emerging
genetic diagnosis for their child. The purpose of this study is to explore these parental experiences to
enable genetic counsellors and other healthcare professionals to better support this heterogeneous
population.
We completed semi-structured interviews exploring parental perspectives, reactions and actions
following their child's genetic diagnosis through the Genomic Research Sequencing Clinic at Duke
University. We defined an emerging diagnosis as occurring in < 100 published cases and novel
diagnosis as a previously unreported disorder. Seventeen parents (13 mothers/4 fathers) were
interviewed; 3/17 children were included in publications describing an emerging disorder and 4/17
were included in the first publication establishing a novel diagnosis.
Similar to parents whose diagnostic odyssey ended with rare diagnoses, parents of children with these
ultra-rare emerging/novel disorders reported a range of emotions, including benefits of having a
named condition and the challenges of facing the unknown. Differing attitudes were expressed
towards adjusting to ones child's condition, some parents described feeling lost and confused while
others expressed feelings of empowerment.
Within those empowered parents there was a subset of parents who proactively identified and
engaged with basic science and clinical researchers, supported scientific investigation and publication,
and created patient advocacy and support organizations as a means to connect and bolster similarly
diagnosed families. While many parents demonstrated pioneering characteristics in seeking better
care for their children in unchartered waters after diagnosis, the pioneer parents subset take that
further to perform advocacy, outreach to similar others and foster research. We will provide
characteristics of this subset of pioneer parents.
Our findings give insight into the experience of parents whose children are diagnosed with emerging
or novel genetic conditions. Pioneer parents may need support in focusing activities such as
identifying ways to engage with researchers and patient advocacy communities. Conversely, some
parents will need support to navigate downstream options such as further medical care and research
opportunities. Genetic counsellors can play an important role in facilitating positive steps with parents
as they move forward from undiagnosed to parenting a child diagnosed with a novel/emerging
disorder.
Making decisions about couple-based reproductive genetic carrier screening: The experiences of
couples enrolling in Mackenzie's Mission

Erin Tutty1,2, Belinda J McClaren1,2,3, Emily King1,2,3,4, Jane Halliday3,5, Martin Delatyki3,4,6, Kristine
Barlow-Stewart7, John Massie3,8, Edwin Kirk9,10,11, Nigel Laing12,13 and Alison D Archibald3,6

1 Australian Genomics Health Alliance, Melbourne, VIC, Australia, 2 Genomics in Society, Murdoch Children’s
Research Institute, Melbourne, VIC, Australia, 3 Department of Paediatrics, The University of Melbourne, VIC,
Australia, 4 Bruce Lefroy Centre for Genetic Health, Murdoch Children’s Research Institute, Melbourne, VIC,
Australia, 5 Reproductive Epidemiology, Murdoch Children’s Research Institute, Melbourne, VIC, Australia, 6
Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia, 7 Northern
Clinical School, Faculty of Medicine and Health, University of Sydney, Australia, 8 Department of Respiratory
Medicine, Royal Children's Hospital, Parkville, Victoria, Australia, 9 Centre for Clinical Genetics, Sydney
Children’s Hospital Randwick, Randwick, NSW, Australia, 10 School of Women’s and Children’s Health,
University of New South Wales, Randwick, NSW, Australia, 11 NSW Health Pathology East Genomics
Laboratory, Randwick, NSW, Australia, 12 Centre for Medical Research, The University of Western Australia,
Nedlands, WA, Australia, 13 Harry Perkins Institute for Medical Research, Nedlands, WA, Australia

Introduction: Mackenzie's Mission is an Australian reproductive genetic carrier screening (RGCS) study offering
free RGCS to couples pre-conception or during early pregnancy. Both members of a couple (henceforth
'participants') are screened concurrently for approximately 1300 genes that underlie about 750 serious,
childhood-onset conditions. They receive an 'increased chance' result only if both carry a pathogenic/likely
pathogenic variant causing the same autosomal recessive condition or, in the female partner, an X-linked
recessive condition. Participants individually review educational material, complete an optional decision aid,
consent to the research study and are offered the option to consent to RGCS via the study website. Participants
complete a survey at enrolment and are invited to complete subsequent surveys and interviews throughout the
study including at the time of providing the genetic sample. Experiences of enrolling in Mackenzie's Mission and
making decisions about couple-based RGCS are presented here.

Methods: A mixed-methods approach was taken. Descriptive analyses were performed using STATA 16 for
survey data pertaining to decision-making, including scores on the decisional conflict scale (0=no conflict,
100=high conflict). Semi-structured interviews were conducted with purposively sampled participants prior to
receiving their result. Interviews explored experiences enrolling via the website, motivations to have RGCS and
the couples' decision-making process. Interview transcripts were analysed as a team using thematic analysis.

Results: Survey responses (N=4232) indicate that planning a pregnancy in the near future and wanting to learn
reproductive risks were most influential in participant's decisions (78.6% and 71.4% strongly agreeing,
respectively). Decisional conflict was low (mean=10.3) at the time of providing the genetic sample, supporting
the notion that participants were confident in their decision. Interviews with 22 participants (13 females, 9 males)
were conducted. All expressed enthusiasm for RGCS and agreed that the online education and consent process
was simple and convenient. Participants valued completing the decision aid, reporting that the tool helped affirm
their screening choice. Prior exposure to genetic conditions motivated some to have RGCS. Participants valued
the simplicity of the couple-based model as it allowed them to focus on information most pertinent to their current
reproductive planning. Most anticipated feeling reassured by their result.

Conclusion: A couple-based model of RGCS is acceptable and the online education and consent process
adequately supports decision-making. This adds to the evidence-base for the development of an ongoing
population-wide RGCS program in Australia. Research is underway to explore couples' experiences, genetic
counselling needs and reproductive outcomes once they receive their result.
Adolescents’ experiences of genetic counselling, testing, and diagnosis: a scoping review
Ms Tasha Wainstein (a), Dr. Sheila K. Marshall (b,c), Dr. Colin Ross (d,e), Dr. Alice Virani (a,f),
GenCOUNSEL Study, Dr. Jehannine C. Austin (a,g,h), Dr. Alison M. Elliott (a,d,i)
a. Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver,
BC, Canada, b. School of Social Work, University of British Columbia, Vancouver, BC, Canada, c.
Division of Adolescent Health and Medicine, Department of Pediatrics, Faculty of Medicine, University
of British Columbia, Vancouver, BC, Canada, d. BC Children’s Hospital Research Institute,
Vancouver, BC, Canada, e. Faculty of Pharmaceutical Sciences, University of British Columbia,
Vancouver, BC, Canada, f. Provincial Health Service Authority of British Columbia, Vancouver, BC,
Canada, g. BC Mental Health and Substance Use Services Research Institute, Vancouver, BC,
Canada, h. Department of Psychiatry, Faculty of Medicine, University of British Columbia, Vancouver,
BC, Canada, i. BC Women’s Hospital Research Institute, Vancouver, BC, Canada
Importance: The number of adolescents diagnosed with genetic disorders is increasing as genome
sequencing becomes standard as a clinical diagnostic test. However, the adolescent experience of
receiving a genetic diagnosis has not been extensively studied. Little is known about the needs of
adolescents with genetic diagnoses with regard to their experience of clinical genetics services
including genetic counselling.
Objective: This scoping review aimed to determine the breadth of research which has been
undertaken to establish how adolescents with genetic conditions engage with genetic/genomic
counselling.
Evidence Review: An electronic literature search of Medline, EMBASE, CINAHL and PsycINFO was
undertaken (n=2870). Articles (primary literature, knowledge syntheses, grey literature), in English,
which investigated the experiences of individuals in the second decade of life were included. Data
were extracted from 45 eligible articles and analyzed descriptively.
Findings: The majority of studies were conducted in the United States (n=13), the United Kingdom
(n=8), Australia (n=8), and Canada (n=6). A total of 29 distinct monogenic disorders were investigated
across the analyzed articles. Sample sizes ranged from a single participant to 930 (median = 23;
mode = 9) with publications from 1977 to 2019. Included studies addressed all aspects of genetic
counselling, but there was a preponderance of articles related to knowledge about genetic conditions
(17/45; 38%) and challenges of communication within families (16/45; 36%). Fewer articles addressed
lived experiences of adolescents with genetic conditions (8/45; 18%) and how this might impact the
provision of counselling. Only one study addressed any aspect of genetic counselling in relation to
genome sequencing.
Conclusions and Relevance: This review suggests the need for a systematic reconsideration of the
genetic counselling process to ensure a tailored healthcare service for this population. This is
especially important when one considers the burgeoning sizes of adolescent populations globally and
increasing access to genome sequencing. These findings will be used as the basis for developing
research to support an evidence-informed genetic counselling service for adolescents.
A Rare Case of Sjogren Larsson Syndrome- Prenatal Genetic Counseling
Mr NADIR AMAN, Rachana Maragani , Dr. Sunitha Tella, Dr. Venkateshwari Ananthapur
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana,
India-500016
Background: Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by
scaling skin (ichthyosis), intellectual disability, speech abnormalities, and spasticity. SLS was first
described by Swedish physicians, Sjogren and Larsson in 1957. SLS is a type of leukodystrophy,
which are rare, progressive, metabolic, genetic diseases that affects the brain, spinal cord and often
the peripheral nerves. SLS is caused due to the mutation in the ALDH3A2 gene, which is located on
chromosome 17 on the p arm at band 11.2. The enzyme made by the ALDH3A2H gene is responsible
for breaking down certain molecules called medium- and long-chain fatty aldehydes.
Case History: A couple of age 34-year male and 31-year female with 7 years of consanguineous
marriage, presented with G3P2L2 with previous child aged 6-year diagnosed with Sjogren-Larsson
syndrome (SLS) showed homozygous deletion in the contiguous region encompassing at exon 18 -
intron 18 boundaries of ALDH3A2 gene.
Clinical Data: On physical examination the index male child showed delayed milestones, seizures and
lamellar ichthyosis.
On clinical examination, a homozygous deletion in the contiguous region encompassing at exon 18 -
intron 18 boundary of ALDH3A2 gene (Chr17.19568310del) was detected in the index patient by NGS
and was further validated by Sanger sequencing.
The same variation was detected in heterozygous condition in the unaffected parents of the index
patient, indicating that the parents are asymptomatic carriers of this pathogenic variation detected in
the index patient.
Genetic Counseling: Sjogren-Larsson syndrome is inherited in autosomal recessive manner. The
parents of the proband were evaluated and same variation was detected in heterozygous condition,
indicating that the parents are asymptomatic carriers of this pathogenic variation detected in the
proband, therefore the present pregnancy was advised for chromosomal microarray to detect the
same mutation in the fetus. The parents were suggested to take intensive care for the affected child
and consult dermatologist for skin problems and other multidisciplinary medical care.
Genetic Counselling Resources in non-English Languages: a Scoping review
Rhea Beauchesne, Patricia Birch, Alison M. Elliott
Department of Medical Genetics, University of British Columbia, Vancouver, Canada;
BC Children’s Hospital Research Institute, Vancouver, Canada;
Women’s Health Research Institute, Vancouver, Canada

Background: Genetic counselling (GC) is an essential service for individuals receiving genetic or
genomic testing to ensure that the risks, benefits, and implications of testing are understood. To meet
the growing demand facing the clinical genetics workforce, innovative strategies for GC delivery are
being explored. In developing these strategies, it is important to consider the unique needs of
underserved populations so that they receive quality services. Evidence shows that individuals not
receiving GC in their preferred language are more likely to experience negative outcomes. Interpreter
services are sometimes available for in-person and telehealth encounters but high-quality
supplementary (i.e., text or audiovisual) genetics education materials in languages other than English
appear to be lacking. Translated materials must consider both linguistic and cultural accuracy so that
the message of the text remains clear, which is particularly important in a GC context where topics can
be highly sensitive. Methods: A scoping review was completed to examine the extent, range, and gaps
in the body of non-English, patient-facing GC resources available for Limited English Proficient (LEP)
patients accessing clinical genetics and genomics services. A systematic search of 7 bibliographic
databases and grey literature was completed following the Preferred Reporting Items for Systematic
Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) framework. Results: The
literature search returned a total of 11,205 sources. Following de-duplication and screening, 243
unique materials remained, some available in several languages. Forty-seven languages were
represented, with Spanish, Russian, and French being the most common. Resources included
leaflets, booklets, interactive web platforms, and educational videos. Two-hundred-and-twelve
resources were confirmed to have been translated by experts, 7 had been pilot tested with the target
population, and 32 had been validated for efficacy. The process of translating, pilot testing, and
validating differed widely - some authors described their process to ensure linguistic and cultural
accuracy, others failed to define efforts made toward this goal. Conclusions/Practice Implications: We
conclude that there is a lack of high-quality supplementary genetics education material available in
languages other than English, which limits the quality of care LEP families may receive compared to
their English-speaking counterparts. Of equal concern is the difficulty in finding existing resources and
in determining their quality. A central, curated repository, perhaps sponsored by a genetic counselling
organization, would be of great benefit to help genetic counsellors meet the needs of their
underserved, LEP patients.
Using Learning Analytics to Optimize Design of Online Learning Courses in Genomic
Counselling
Ms Patricia Birch, Leah P. Macfadyen, Linda Duong, Ping Cao, Simone Race, Carol Cremin, Colleen
Guimond, Farah Zahir
Master of Educational Technology Program, Faculty of Education; and Department of Medical
Genetics, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
Background: We developed a four-course, fully online, international graduate certificate in genomic
counselling and variant interpretation to support genetic counsellors'/nurses' continuing professional
education. (https://medgen.med.ubc.ca/genomic-certificate/). Collaboration between genomics
experts and educational technologists enabled creation of innovative, engaging, and relevant courses
for working professionals. We employed qualitative surveys to gather feedback on learners' course
experiences. But to discover 'what really happened', and how learners actually navigated course
materials and activities, we also used learning analytics methods.
Learning analytics (LA) is the "measurement, collection, analysis and reporting of data about
learners... for purposes of understanding and optimizing learning..." (Long & Siemens, 2011). In online
learning environments, every action generates data that can be collected and analyzed - using
concepts and methods drawn from statistics, machine learning, educational psychology, and learning
sciences - to provide new insights into learning. Alignment of learning analytics and learning design
offers educators evidence - beyond simple 'learner satisfaction' - that their efforts and innovations
improve learning outcomes.
Methods: We used "Threadz" social network analysis plugin for "Canvas," our institutional Learning
Management System (LMS) to visualize and analyze learner engagement in course-based discussion
forums and the development of a learning community; we employed text analysis to discover common
themes and problems in learner discussions; and used video-viewing analytics for recorded lectures to
discover which videos held learner attention and which were less successful. LMS activity metrics
quantified use of learning resources. These data were cross-referenced with learner feedback to
reveal the strengths and weaknesses of our initial learning design.
Results & Discussion: While learner feedback was overwhelmingly positive, LA identified a number of
areas for improvement. LMS analytics confirmed that we had underestimated learner workload for
some topics and activities, and highlighted inconsistencies in workload between modules. Network
analysis identified some discussion forums with low engagement, while text analysis revealed which
forums catalyzed richer discussion. Video viewing pattern data revealed which lectures had high 'drop-
off'. Concomitant learning design recommendations included improved learner-facing discussion
prompts, guidance on post length and tasks, adjustment of module pacing and requirements to help
learners manage workload, and simple technical changes such as dividing videos and introducing
time-point anchored discussion to promote interaction and reflection on video lecture materials.
Conclusions: The rich insights gained from learning analytics have helped instructors to better
understand student behaviour and guide the continuous process of design improvement to support the
learning goals of our audience of professional learners.
Experiences of HEE-funded secondment to embed a genetic counsellor into local renal
services to support genomics mainstreaming
Ms Laura Butland
Nottingham University Hospitals NHS Trust
Genomics mainstreaming is changing the landscape in which genetic counsellors work. To be
successful, mainstreaming clinicians require an understanding of how genomics can benefit their
patients and the confidence to incorporate testing into their clinical pathways. Genetic counsellors are
well-placed to support our non-genetics colleagues and take on a larger role in education and training.
Targeted engagement of renal physicians based at Nottingham University Hospitals during the
100,000 Genomes Project resulted in a 6-fold rise in mainstreamed renal panel test requests over
subsequent years. To ensure equity of access for all patients, a need was identified for targeted
engagement with all renal services across our region. This coincided with an emerging training need
to support the introduction of whole genome sequencing (WGS) for cystic renal disease on the
National Genomic Test Directory from May 2021.
Through funding awarded via Health Education England (HEE) a 12-week genetic counsellor
secondment with regional renal teams was established in Summer 2021. Baseline confidence in
genomics, consent conversation and consent recording was ascertained through direct engagement
with renal services and the identification of a 'renal champion' within their team. Educational
interventions including drop-in sessions and themed educational meetings were held for all clinicians
and resources developed to support delivery of genomics in the clinic.
The secondment model of embedding into services allowed direct screening of patients to identify
those eligible for genetics to be identified before their next clinic visit, streamlining the process for
clinicians and helping familiarise them with eligibility criteria and testing processes more quickly.
Post-engagement feedback helped capture successes, particularly around consent conversation and
recording. Feedback also helped shape the model for future collaborative working and opened the
possibility for expanding regional and national renal genomics networks. Evaluation continues to
assess the impact of this project through number of mainstream orders for renal panels and the
increased diversity of hospital origin for renal panels.
Importance of genetic counselling while offering Non-Invasive Prenatal Testing – Case reports
Ms. Angela Devanboo, Shweta Mahalingam and Dr. Priya Kadam
MedGenome Labs Ltd, Bangalore, India
Background: Non-Invasive Prenatal Testing (NIPT) utilises cell free DNA (cfDNA) to screen for
chromosomal aneuploidies in the fetus. The current ACOG guidelines, ACMG guidelines and ISPD
recommendation states that NIPT can be offered to all pregnant women as this test offers higher
sensitivity. NIPT can screen for common aneuploidies such as Trisomies 21, 18, 13 and sex
chromosomal aneuploidies (X0, XXY, XXX and XYY). Here we present case scenarios to highlight the
significance of pre-test and post-test genetic counselling while offering NIPT.
Case 1: A couple had their first child with Trisomy 18. During her first pregnancy, 19weeks ultrasound
picked up bilateral choroid plexus cysts and the quadruple screening was low risk for Down syndrome
and Edward's syndrome. No further testing was done. The couple had conceived again and at
10weeks they had come for pre-test genetic counselling.
Case 2: The mother (32yrs) was 12weeks pregnant when NIPT was offered to her. The first trimester
ultrasound was normal and categorised her pregnancy as low risk. However, her NIPT result came as
'High risk for Monosomy X'. The post test counselling was done for the patient.
Case 3: The mother (23yrs) herself has Down syndrome. At the time of NIPT testing, she was 18
weeks. Her clinician had suggested diagnostic testing to identify if the fetus had Trisomy 21. Post
counselling with the clinician, the patient had decided to go with NIPT. Both pre-test and post-test
counselling were done in this case.
Conclusion: The ACMG guidelines recommend that both pre-test and post-test counselling is
accessible to all pregnant women regarding the screening tests available and also recommends that
high risk NIPT results must be further investigated as certain biological mechanisms can cause false
positive result. The genetic counselling sessions aid the patient in understanding the clinical
performance and the utility of the screening test. These sessions also help the couple in taking an
informed decision regarding the pregnancy in case a high risk NIPT result is obtained. In this case
reports, genetic counselling played a key role and influenced the patients' decisions concerning the
plan of action for the pregnancies.
An overview of the impact of genomics in genetic counselling
Dr Irene Esteban (1), Adria Lopez-Fernandez (2), Judith Balmaña (2,3)
1 West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow,
Scotland, UK
2 High Risk and Cancer Prevention Unit, Vall D’Hebron Institute of Oncology, Barcelona, Spain
3 Medical Oncology Department, Vall D’Hebron Hospital, Barcelona, Spain
Massively parallel sequencing is being implemented in clinical practice through the use of multigene
panel testing, whole exome sequencing and whole genome sequencing. We performed a non-
systematic review of the literature to explore how the use of massively parallel sequencing may
change the process of genetic counselling.
We found some differences that may impact the process of genetic counselling, although we
concluded that genetic counsellors can still use their core skills and enhance some of them in order to
evolve and meet patients' needs in the genomics era. For example, with the introduction of exome and
genome sequencing, genetic counselling will frequently involve discussion of patients' preferences
regarding incidental findings. Although genetic counsellors are skilled in helping patients make
informed decisions about genetic testing, the lack of formed opinions and emotional connections with
some conditions, due to the absence of personal or family experience, may result in a different
decision-making process.
Another example is the increased amount and complexity of information that needs to be discussed
before genetic testing. One genetic counselling skill that will gain importance in genomic settings is the
ability to recognize the content and quantity of information to share with each client. In the genomic
era it is even more critical to spend time performing a psychosocial assessment, understanding the
client's perspective, and determining the most relevant information for each individual. Genetic
counsellors must assess patients' understanding throughout the session and find the relevant
information for the patient based on their background, values, culture and beliefs while avoiding
information overload. In order to find that balance, genetic counsellors should encourage patients to
critically reflect on the kind and the volume of the information that they need. In addition, as
information alone is not enough to make decisions, genetic counsellors' role is to engage the patient in
a discussion of the implications of that information for them and their family.
These and other implications of massively parallel sequencing for genetic counselling (e.g. increased
uncertainty and different hopes and expectations) will be discussed during the talk/poster along with
recommendations for practice.
Effectively communicating a child's rare disease (RD) diagnosis to parents: a potential role for genetic
counsellor involvement.

Miss Charlotte Hanmer-Lloyd, Roberta Rizzo - Principal Genetic Counsellor

The University of Manchester, Wessex Clinical Genetics Service

It is estimated that there are currently over 7000 RDs and more are being identified through advancing genome
research with 80% of RDs having an identified genetic origin. RD services account for around 10% of NHS
spending with 75% of RDs directly impacting children. Evidence suggests that effective communication of a
child's RD diagnosis reduces parental stress and is important to the future health and well-being of the parents
and their child. However, international empirical evidence indicates fairly widespread parental dissatisfaction
with various HCPs concerning their child's diagnosis event in terms of both their informational and, importantly,
their psychosocial needs being unmet. More specifically, parents clearly identified a number of areas where they
felt communications relating to their child's RD diagnosis could be improved. These were:

• Greater care coordination is required between HCPs during the child's diagnostic odyssey.

• Overly technical genetic explanations by HCPs often confuse and alienate parents.

• Diagnosis communications should be delivered in a sensitive, empathetic, timely, honest and 'tailored'
way that recognises the contextual issues involved for the whole family.

• The parental 'voice' should be encouraged and acknowledged, this includes listening to and validating
parental concerns, greater equality in communication and encouraging parents to participate in decision-making
for their child.

• HCPs should communicate a more 'balanced' message that recognises possibilities not just disabilities
which allows parents an element of hope for their future.

• Parents value clarity around 'next steps', thus helping reduce uncertainty/stress.

• Parents particularly value the identification of online/offline information resources relating to other similar
families, support groups and reliable sources of further information about their child's RD.

• Parents appreciated being updated on new research and its implications for their child's treatment.

• Parents, universally, identified the need for emotional/psychological support at the time of the child's RD
diagnosis.

Combining the 'mainstreaming' agenda with increased use of NGS within the NHS suggests that the
communication of children's RD diagnoses will become both more complicated and fragmented. The parental
needs reported above clearly link directly to genetic counsellor (GC) knowledge and skills. Therefore, this would
support GC involvement either directly or indirectly through collaboration with other HCPs to contribute to
parents understanding of, and adaptation to, their child's RD diagnosis. Finally, the evidence clearly supports the
Conference premise that "Communicating the meaning and impact of genomic sequencing technology for
people is just as important as the technological advances themselves".
Challenges and Opportunities in Managing Clinical and Genetic Diagnosis: Ambiguities in
Genetic Counselling
Mrs Siddhita Jadhav, Brinda Ramanathan, Deepika Karthik Kumar, Sugirdhana Parthiban
Ramsait,Uthra Satagopan, Govindasamy Kumaramanickavel
GenVams Trust
Purpose: The purpose of this study is to understand and manage the challenges while managing
ambiguous clinical diagnosis along with the variant of uncertain significance (VUS) in genetic
diagnosis during genetic counselling.
Background: The clinical ambiguity along with VUS create challenges for physicians, genetic
counsellor and patients, as it is difficult to interpret the results and come to the conclusive counselling
course. To manage such challenging situations additional clinical and genetic testing information may
be useful.
Method: We have included three subject studies who were referred by physicians to our clinic with the
suspected clinical diagnosis. Targeted sequencing was performed for all included cases and VUS was
detected in all subjects.
Results: Case 1: A one-month-old female child was presented to the clinic with suspected inborn
errors of metabolism (fatty acid oxidation defect) and has been evaluated for pathogenic variations. A
VUS was identified in the ACADS (Acyl-CoA Dehydrogenase Short Chain) gene. ACADS is a Protein
Coding gene and mutations in this gene have been associated with short-chain acyl-CoA
dehydrogenase (SCAD) deficiency.
Case 2: A 40-year-old male was presented to the clinic with suspected mild Fabry disease or coeliac
disease and has been evaluated for pathogenic variations. A VUS was identified in the GLA
(Galactosidase Alpha) gene. GLA is a Protein Coding gene. Diseases associated with GLA include
Fabry Disease and Hypertrophic Cardiomyopathy.
Case 3: A 3-year-old female child was presented to the clinic with suspected congenital myopathy and
has been evaluated for pathogenic variation. A VUS was identified in the RYR1 (Ryanodine Receptor
1) gene. RYR1 is a Protein Coding gene. Mutations in this gene are associated with malignant
hyperthermia susceptibility, central core disease, and minicore myopathy with external
ophthalmoplegia.
Case 4: A 9-year-old male was presented to the clinic with a clinical diagnosis of bilateral
retinoblastoma. Clinical exome sequencing, MLPA and cytoscan were performed to identify the
pathogenic variants. None of the mentioned genetic tests revealed the presence of a mutation.
Conclusion: Additional investigations such as biochemical investigations, detailed family segregation
studies and reanalysis of the data based on the new clinical/family information might be helpful for the
reclassification of the variant. Genetic counsellor's periodical interaction or follow-ups with physician
and genetic testing laboratory interaction would be helpful to reclassify the variant. Publishing the data
would help the field to come to a collective conclusion and help the counselling fraternity.
Emerging experiences of working in UK clinical genetics services during the COVID-19
pandemic
Miss Aamisha Kyada and Miss Makaela Jacobs-Pearson
Clinical genetics services offer care to adults, children and families with genetic conditions. The
COVID-19 pandemic has caused a number of rapid changes to patient care across the UK. Clinical
genetics services have adapted to the ongoing challenges of social distancing and redeployment
whilst balancing the safety of colleagues and patients. Many centres have rapidly replaced face to
face consultations with video and telephone consultations. We have asked Healthcare Professionals
in UK clinical genetics services to provide insight into their experience of working during this unique
time. Through assessing this data, we will utilise mixed methods to determine the challenges
experienced and how services have adapted and developed resilience to provide the best possible
service to patients in the landscape of COVID-19 and beyond.
We invited UK based Clinical Geneticists, Genetic Counsellors, Trainees and Students to participate in
this questionnaire.
Preliminary results show excellent engagement with 138 responses to date from a wide number of UK
clinical genetics services. The impact of the pandemic on Healthcare Professionals is clear; decreased
patient and colleague contact is proving challenging. The adaptations, with increased use of telephone
and video consultations, have enabled continued patient care. Additionally, our preliminary data shows
substantial impact on job satisfaction. Current data trends have identified what is, and is not, working.
We therefore hope this research can be used to help plan future healthcare models to protect staff
wellbeing and patient care.
Challenging preconceptions of race in genetic testing for “Ashkenazi Jewish conditions”
Dr Anna Lehmann, Eshika Haque, Vishakha Tripathi, Sasha Henriques
Guy's and St Thomas' NHS Foundation Trust
In preparing for genetic counselling of a client we try not to make assumptions about the counselling
needs of our patient based on race or ethnicity. Some types of testing are aimed at specific
populations and we therefore ask questions about ethnicity in order to think about carrier frequency or
a likelihood of increased risk.
This case presentation demonstrates that sometimes our assessment of who may be affected by a
condition need to be adjusted when a patient is from an ethnic or cultural group which is unexpected.
Case:
An Afro-Caribbean woman lost her son to Tay Sachs at the age of two years. She now wished to have
carrier testing for a new partner also of Afro-Caribbean origin and for her daughter to consider genetic
testing for Tay Sachs and a chromosome translocation.
Challenges:
In preparing for the case it became apparent that there was no population data for Afro-Caribbean
carriers of Tay Sachs. I was only able to provide figures for Worldwide or African carrier frequency.
The testing was also complicated by the possibility that pseudoalleles are found at a higher frequency
in the non-Ashkenazi Jewish population resulting in an inconclusive biochemical test for the new
partner. Full sequencing of the gene was therefore required. Sequence analysis relies on population
control data which for Tay Sachs may be skewed to a white or Ashkenazi-Jewish population.
Reflections:
Having previously seen many couples for Tay Sachs counselling- where no couples I had seen were
of Afro-Caribbean origin, this consultation made me address my pre-conceptions of the type of couple
that I might meet in these circumstances.
The particular counselling issues for this woman arose from the tension between her
acknowledgement of the rarity of the condition, the very unlikely event that a new partner of non-
Ashkenazi Jewish origin would be a carrier yet the need for reassurance through full genetic testing. I
found that although ethnicity was significant to the risk assessment of this couple, the psychological
impact of testing for a rare condition in this family was similar to ashkenazi couples I have met in the
genetic counselling clinic.
20 years of In Vitro Fertilization in Indonesia: Access to infertility care in developing country
Dr Nurin Aisyiyah Listyasari, Nurin Aisyiyah Listyasari (1), Pritta Ameilia Iffanolida (1), Kresna Mutia
(1), Ririn Rahmala Febri (1), Naylah Muna (1), Oki Riayati (1), Tri Septyani (1), Sarah Chairani Zakirah
(1), Eliza Mansyur (2), Tita Yuningsih (2), Siti Mariyam (2), Endang Purdiningsih (2), Budi Wiweko
(1,2,3), on behalf of the Indonesian Association of IVF (PERFITRI)
(1) Human Reproductive, Infertility and Family Planning Research Center, Indonesian Medical
Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta,
Indonesia. (2) Yasmin IVF Clinic, Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia. (3)
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology,
Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
The World Health Organization (WHO) acknowledges infertility as a global health issue and has
included universal access to sexual and reproductive health care as one of the Millennium
Development Goals. The implication of infertility on women's lives in low-resource settings, in
particular those in developing countries, has become a prominent issue in reproductive health.
Currently the data on global prevalence of infertility was estimated to be 3.5-16.7% in developing
countries and 6.9-9.3% in developed countries. According to Indonesian report, the incidence rate of
infertility was 10-15% due to a variety of factors.
Many studies and innovations have been developed to enhance the success of infertility management
and the outcome of in vitro fertilization (IVF) access and methods. However, the effectiveness of
assisted reproductive technologies (ART) in resource-limited settings was highly reliant on the ability
to optimize these techniques in terms of accessibility, affordability, and effectiveness. The aim of this
study is to present the IVF program in Indonesia, a developing country over the last 20 years. In a
descriptive analysis, we provide an overview of the current state of access to infertility care in
Indonesia.
We report a retrospective cohort study based on IVF data conducted in Indonesia over the last 20
years. The number of fertility clinics in Indonesia has increased from 14 reporting clinics in 2011 to 41
reporting clinics by 2020. A total of 69.569 ART cycles were performed, 51.892 cycles using fresh
embryos and 17.677 cycles using frozen embryos. According to the age of the woman who had the
ART procedure, the majority of women using ART services were women younger than age 35,
representing approximately 48,85% of ART cycles. The percentage of ART cycles that resulted in a
pregnancy was 29.94 % of total ART cycles. The infertility diagnoses reported among couples were as
follows: tubal factor: 12,6%; ovulatory disfunction: 5,9%; diminished ovarian reserve: 4,1%;
endometriosis: 7,7%; male factor: 25,5%; unexplained infertility: 11,0%; multiple factors, female-only:
9,2%; multiple factors, female-male: 23,9%.
We also identify several contributing factors to Indonesia's limited coverage of reproductive
management, as well as reproductive knowledge and patient education needs among Indonesian
women infertility patients attending fertility clinics.
This report demonstrates that developments in ART in developing countries have resulted in
significant ART outcomes in clinical practice. The identification of key areas that require improvement
can provide an opportunity to enhance access to infertility care.
Role of Genetic Counselling in Termination of Pregnancy Without Confirmation for High-Risk
results in Non-Invasive Prenatal Testing (NIPT)
Ms Shweta Mahalingam, Angela Devanboo, Dr. Priya Kadam
MedGenome Laboratory Ltd, Bangalore, India.
Non-Invasive Prenatal Testing (NIPT) can be used to screen for common chromosomal aneuploidies
from 9-10 weeks of gestation using the cell free fetal DNA from maternal blood. It is widely accepted
as a screening test due to its high sensitivity and specificity. International guidelines provided by the
ACOG, ACMG and ISPD recommend all high-risk results in NIPT must be confirmed with diagnostic
testing due to the possibility of false positives. However, it is observed that many patients opt for
termination of pregnancy without any confirmation after high risk NIPT result. In one of the previous
studies, the percentage of patients opting for termination without confirmation was found to be 6.2%
(Dar et al., 2014). We followed up our high risk NIPT cases between the time period of August 2018 to
August 2021 and found 11.35% of high-risk patients opting for termination without confirmation. One
of the various reasons contributing to such decisions include unawareness about the utility of the test,
implication, and its place in prenatal testing. Most of these issues can be handled by adequate and
appropriate genetic counselling. Genetic counselling must include educating the consultands about
the nature of the test, the performance, and the possibility of false positive results and the significance
of diagnostic testing. It can help the consultands be more prepared for further testing after positive
results in NIPT. In this study, we have explored the reasons for termination of pregnancy without
confirmation after positive NIPT result, the role of genetic counsellors and the points that can be
included in the genetic counselling sessions for educating the consultands before taking any
irreversible pregnancy related decisions.
Keywords: NIPT, false positive, termination without confirmation, genetic counselling.
Caregivers’ Views on Genetic Role in Schizophrenia
Dr. Ziske Maritska, Bintang Arroyantri Prananjaya, Raden Ayu Mulya Liansari, Puji Rizki Suryani, Nita
Parisa
Faculty of Medicine, Universitas Sriwijaya, Palembang, Indonesia
Background. Schizophrenia is a significant mental disorder caused by a complex interaction between
genetic and environmental factors. It is a highly inherited disease, with increased risk among people
with family members affected with schizophrenia. This study wished to identify caregivers' views on
the genetic role in the development of schizophrenia.
Methods. Seventeen people with family members affected with schizophrenia who acted as the
caregiver consent to participate in the study. A validated questionnaire on knowledge towards
schizophrenia was given to the subjects through a google form, followed by an online open discussion
session a week after through the WhatsApp messaging platform.
Results. The majority of the caregivers with higher education backgrounds were not aware that
schizophrenia is affected by genetic factors (64.71%), while only 35.29% of caregivers recognized the
role of genetic factors on the development of schizophrenia.
Conclusion. With the seemingly embedded stigma around schizophrenia, the understanding of its
causes and courses become mandatory. However, despite having family members with schizophrenia
and having higher education background, many caregivers lack the knowledge of the genetic role in
schizophrenia, signifying the need for continuing education around this matter.
British Pakistani Women’s Perspectives on Genomics and its use in Healthcare
Ms Hema McSara, Mr Mushtaq Ahmed
University of Manchester, Leeds Teaching Hospitals Trust
Background: Despite public engagement efforts the British public's awareness of genomics remains
limited. Lack of diversity in genomic databases in conjunction with barriers to engaging ethnic
minorities are contributing to an inequity of access to genomic medicine. Research on the public's
views of genomics includes minimal representation of ethnic minorities.
Aims and objectives: To explore and understand perceptions of British Pakistani women on the use of
genomics in healthcare.
Methodology: Semi-structured interviews with 10 women recruited through purposive sampling
and snowball recruitment. Interviews were analysed qualitatively using thematic analysis.
Results: Three overarching themes emerged from the data: (1) Engagement with the concepts of
genomic data and its use in healthcare, (2) The stigma around consanguinity in relation to genomics,
(3) Governmental responsibility to increase awareness and integration of genomic
medicine into mainstream healthcare.
Educational videos increased knowledge of genomic medicine. Perceived benefits included improved
diagnosis and personalised treatment, with perceived barriers including accessibility (particularly with
language and genomic concepts), religion and burden of information.
Participants would altruistically share genomic data within the trusted healthcare system if informed
and would prefer to receive genomic healthcare information within the NHS setting when clinically
relevant. Genomics was also associated with consanguinity and stigma; with an identified generational
shift in this cultural practice.
Most participants viewed community education as a governmental responsibility through schools and
the NHS, with personal relevance being key.
Conclusions: Participants demonstrated a lack of awareness of genomic concepts as shown in the
general population, although were engaged and open to genomic medicine.
Successful mainstreaming of genomic medicine requires further research in minority groups, a multi-
faceted approach to engagement, transparency to maintain trust and changes at strategic levels to
minimise disparity
Highs and lows of video consulting in clinical genetics: data from a 1year study
Prof. Ramona Moldovan, Charulata Deshpande, Rhona Macleod
1. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals
NHS Foundation Trust, Manchester, United Kingdom.
2. Division of Evolution and Genomic Sciences, School of Biological Science, University of
Manchester, Manchester, United Kingdom.
3. Department of Psychology, Babeş-Bolyai University, Cluj-Napoca, Romania.
Background:
Video consultations have become a viable alternative to face-to-face consultations during Covid19
pandemic and are expected to be used increasingly in the future. To date, there is little evidence to
support the acceptability of these services or to document the benefits and challenges encountered.
Attend Anywhere (AA) is a secure NHS video call service for patients with pre-arranged appointments
and is the preferred video-call platform used by most NHS trusts. Studies exploring use of AA are very
limited and, to our knowledge, there is no data supporting its benefits in Genomic Medicine.
Method:
We report on 2,000+ patients seen in the Genomic Medicine department at Manchester University
NHS Foundation Trust, between May 2020 - June 2021. Participants completed a purposely designed
online survey to assess the acceptability, benefits and challenges of their video consultation. The
survey included both closed and open-ended questions, to give respondents the option to offer
suggestions about best ways to improve the service.
Results:
Respondents found it easy to join the call (92%), had a positive experience overall (94%), and felt that
their needs were met during the call (95%). 70% of the respondents believed the video-consultation
was 'about the same' as a face-to-face consultation, with 20% of them rating it as 'better' and 10%
assessing it as 'worse'. We will present the longitudinal trends of our data, as well as a more detailed
analysis of various sub-categories of participants (e.g. type of appointment, age group). Participants'
open-ended responses were collated and themes extracted. The key themes identified were:
Appointment process; Technical issues; Rapport with clinician; Practicalities.
Conclusions and discussion:
Our data are encouraging and support the continuation of some video consultations in genetic
counselling practice. We will draw on both quantitative and qualitative data to discuss patients' views
on video consulting as well as potential implications for future practice.
Impact of BRCA1/2 cascade testing on anxiety, depression and cancer worry levels among
unaffected relatives in a multiethnic Asian cohort
Ms Heamanthaa Padmanabhan, Shivaani Mariapun1; Sheau-Yee Lee1; Nur Tiara Hassan1; Daphne
Shin-Chi Lee1; Bettina Meiser2; Siu-Wan Wong1; Yong-Quan Lee1; Cheng-Har Yip3; Soo-Hwang
Teo1; Meow-Keong Thong4; Nur Aishah Mohd Taib5*, Sook-Yee Yoon1*
1 Cancer Research Malaysia, Selangor, Malaysia
2Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales,
Sydney, Australia
3 Subang Jaya Medical Centre, Selangor, Malaysia
4 Department of Paediatrics, Genetic Medicine Unit, Faculty of Medicine, University Malaya
Medical Centre, Kuala Lumpur, Malaysia
5 Department of Surgery, Faculty of Medicine, University Malaya Medical Centre, Kuala Lumpur,
Malaysia
Introduction: Cascade testing of BRCA1 and BRCA2 pathogenic variants in families is important to
identify relatives who are at increased risk of developing breast, ovarian, prostate, and pancreatic
cancer because it allows these individuals to opt for appropriate risk management and preventative
strategies to reduce the risk of these cancers. Hence, it is important to understand the psychological
impact of cascade testing on the anxiety, depression, and cancer worry in unaffected individuals,
particularly in the Asian population where only a dearth of studies is available that have assessed the
psychological impact of cascade testing. Such studies are required to guide genetic counseling by
clinicians and genetic counselors of individuals considering cascade testing.
Methods: Unaffected first-, second- and third- degree relatives of probands recruited through the
Malaysian Breast Cancer Genetics Study and the Malaysian Ovarian Cancer Study, who came
forward for pretest counseling, were eligible for this study. In all, 305 unaffected relatives from 98
independent families attended pretest counseling and were offered cascade testing. Validated
questionnaires included Hospital Anxiety and Depression Scale and Cancer Worry Scale were
administered at baseline, and one-month and two-years post-result disclosure.
Results: In total, 169 unaffected relatives completed the baseline questionnaire, and of these, 111 and
39 individuals completed the follow-up questionnaires at one-month and two-years post-result
disclosure, respectively. Overall, levels of anxiety, depression, and cancer worry among unaffected
relatives decreased significantly after result disclosure and remained low two-years post-result
disclosure. Younger relatives and relatives of Malay descent had higher cancer worry at both baseline
and after result disclosure compared to those of Chinese and Indian descent, whereas relatives of
Indian descent had higher anxiety and depression levels post-result disclosure.
Discussion: Given this study demonstrated improved anxiety, depression, and cancer worry outcomes
in both the short- and the long-term, cascade testing can be safely offered to unaffected relatives from
a multiethnic Asian population as we observed.
Risk perception and preferences in risk communication of healthy women with familial breast cancer
history

Mrs Monica Pardo Muñoz, Mònica Pardo1, Adrià López-Fernández1, Eduard Pérez1, Mara Cruellas1, Sara
Torres-Esquius1, Estela Carrasco1, Àngela Velasco2, Àngel Izquierdo2, Àlex Teulé3, Gemma Llort4, Carmen
Yagüe4, Teresa Ramón y Cajal5, Nuria Calvo5, Noemí Tuset6, Conxi Lázaro7, Orland Díez8, Joan Brunet2,3,
Judith Balmaña1

1 High risk and cancer prevention Unit. Medical oncology service. Vall d’Hebron Hospital, 2 Genetic counselling
Unit. Hereditary cancer program. Catalan Oncology Institute of Girona, 3 Genetic counselling Unit. Hereditary
cancer program. Catalan Oncology Institute of Hospitalet, 4 Medical oncology service. Health corporation Parc
Taulí, 5 Medical oncology service. Santa Creu and Sant Pau Hospital, 6 Genetic counselling unit of familial
cancer. Medical oncology service. Arnau de Vilanova de Lleida Hospital, 7 Molecular diagnostic unit. Catalan
Oncology Institute- IDIBELL, 8 Oncogenetics Laboratory. Area of clinical and molecular genetics. Vall d’Hebron
Hospital

In 2020, Breast cancer (BC) was the most commonly diagnosed cancer worldwide. Nowadays, there are several
validated models to estimate BC risk, however, their implementation in clinics needs to go with a proper
understanding of risk communication, so women can take informed decisions.

Objectives: To study numeracy skills, BC risk perception and preferences in risk communication of healthy
women with family history of BC.

Methods: 46 women without personal diagnosis of cancer, between 30 and 65 years old, non-carriers of
pathogenic variant in high or moderate BC risk genes (BRCA1/2, PALB2, CHEK2, ATM) and at least one first
degree relative diagnosed with BC. Canrisk predictive model was used to calculate BC risk estimation. Lipkus
scale and customized questionnaires were used to study women's numeracy skills, BC risk perception and risk
communication preferences.

Results: There were differences between women's BC risk estimation (6.52%) and BC risk perception (25.64%)
in the high risk group classification. One out of three participants (36%) were identified to have low numeracy
skills, showing more difficulties when transforming percentages to fractions (33% wrong answers) or fractions to
percentages (64% wrong answers). However, they highly understood percentages and fractions (97% correct
answers). When analysing communication preferences, 53.7% of the participants considered percentages the
easiest way to understand risks, followed by icon arrays (26%), groups of risk (14.8%) and fractions (5.6%).
Positive and negative framing was appreciated by most of the participants (93.5%), as well as receiving their risk
in comparison with women of their population (96%). "Graphic line" was the preferred format to receive
comparative risks (52%), ahead of "Traffic light graphic" (30%) and "Comparative table" (18%). Finally, next 10-
year communication risk was preferred instead of lifetime risk by women from 40-49 years old (76.1%) and over
50 (84.6%), as well as women with high numeracy skills (80%). Women between 30-39 years old and women
with low numeracy skills had similar preferences for both risks (61.5% and 57.15% in next 10 year-risk,
respectively).

Conclusions: Women with familial BC history are interested in BC risk personalization, although 20% of them will
overestimate their risk. Similar preferences of risk communication between women with different age and
numeracy skills have been observed: prioritizing percentages and pictographs, framing the risk in both positive
and negative formats, using both absolute and comparative risks, and promoting short-term risk over remaining
risk, especially in women over 40 years old and with high numeracy skills.
Combating the diagnostic odyssey in genetic counselling in the post-genomic era in India
Ms Sugirdhana Parthiban Ramsait, Nikhila Ramesh, Sreelakshmi Pradeep, Uthra Satagopan,
Govindasamy Kumaramanickavel
GenVams Trust, Chennai, Tamil Nadu, India
Background
Diagnostic odyssey generally lasts on an average from 6-30 years and it involves multiple tests like
imaging, laboratory and invasive investigations which are expensive and takes an emotional toll on the
families. Understanding the underlying cause of a condition plays a crucial role in managing the
condition. The availability of genetic testing has transformed the gaps in the health care system
Performing whole genome or whole exome sequencing helps an individual to find the underlying
cause of the condition. Though genetic testing has its own sets of merits and demerits, it is
outweighed by the benefits it poses to individuals of families with ultra-rare disorders. Genetic
counsellors play a major role along with clinicians to help the genetic counselling subjects to make an
informed decision with autonomy.
Genetic tests also have their own set of cons. Not ending up with a result and the cost involved are
some of the common issues faced by the family. In the event of finding a novel mutation helps in
research. Other barriers includes the lack of understanding the complexity of genomic tests. Though
genetic testing is expensive, it is a cost-efficient method in the long run provided an accurate
diagnosis is made.
Methodology
This presentation includes five genetic counselling subjects with diagnostic odysseys and how
genomic testing helped the subjects to end their clinical diagnostic ambiguity in a genetic clinic in
Chennai, Tamil Nadu, India
Results
The subjects had the following with original clinical and genetic diagnose (genetic diagnoses after
NGS given within brackets): suspected neurofibromatosis type 1 (NF1, mutation: NF1,c.6855C>A},
retinitis pigmentosa (Usher syndrome, USH2A, c.13649T>G + c.5012G>A), retinitis pigmentosa
(Bardet-Biedl syndrome, BBS5, c.567G>A), type 2 diabetes mellitus (maturity-onset diabetes of the
young - MODY, BLK,c.211G>A) and autism (mucopolysaccharidosis III A-Sanfilippo A Syndrome
SGSH,c.544C>).
Conclusion
Genetic counselling helped the subjects to make an informed decision without ambiguity based on the
molecular diagnosis. Establishing an early molecular diagnosis will help in the prompt intervention
along with accessibility to effective management, rehabilitation and support groups that could
empower the families and provide social integration.
Development of an online narrative group to improve psychosocial support for people with
hereditary ataxias in Portugal
Mariana Policarpo1,2, Maria Barbosa2,3, Marina S. Lemos3,4, Milena Paneque1,2,5, & Álvaro
Mendes2,5
1 ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal; 2
CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology,
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; 3
FPCEUP - Faculty of Psychology and Educational Sciences, Universidade do Porto, Porto, Portugal; 4
CPUP - Centre of Psychology, Universidade do Porto, Porto, Portugal; 5 UnIGENe – Unit for
Genetics and Epidemiological Research on Neurological Diseases, i3S - Instituto de Investigação e
Inovação em Saúde, Universidade do Porto, Porto, Portugal
Living with a late-onset neurological condition can pose difficulties regarding psychological adjustment
along the life cycle. Interventions aimed to foster psychosocial support in affected or at risk individuals
for conditions such as hereditary ataxias (e.g. spinocerebellar ataxias) are very scarce. No
interventions of this kind have been reported in Portugal so far, and there are only very limited
examples of support interventions elsewhere.
The Portuguese Hereditary Ataxia Association (APAHE) approached the research team based at the
CGPP, i3S, University of Porto, in Portugal, stating that some of their associates would be willing to
benefit from a psychosocial-based online group intervention.
We adapted a group intervention of a structured narrative exercise (already implemented in the
context of genetic healthcare with people who tested gene-positive for Huntington disease) to be
delivered remotely in Portugal. In parallel, we set a study to explore, respectively, i) the experiences of
people participating in the narrative group, and (ii) to assess the impact of the intervention in their
psychological wellbeing. Data collection will involve i) observations and post-intervention telephone
semi-structured interviews; and ii) pre/post standardised scales (the Generalised Anxiety Disorder
Assessment-7, the Patient Health Questionnaire-9, and an expressive writing exercise).
The APAHE advertised the narrative group in social media and 13 individuals (all aged >18) stated
their interest in participating. At this point, 9 people already participated in one introductory session; 2
more sessions will take place shortly.
This approach has potential to be extended and adapted for other types of genetic conditions and
populations, and may be used for offering follow-up support in genetic counselling protocols.
Comparative case studies emphasizing the principal role of genetic counsellor in informed decision making
by the patient and family

Ms SREELAKSHMI PRADEEP, Ms. Sugirdhana Parthibhan , Dr. Uthra Satagopan, Prof.Govindasamy

Kumaramanickavel

GenVamsalaya, the GenVams Trust,Chennai, Tamil Nadu, India

Background: A genetic counsellor can help the individuals and families understand and adapt to the medical,
psychological, familial and reproductive implications of genetic contribution to genetic disorders. The study sheds light
on the importance of timely intervention of genetic counsellor to aid in informed decision making and provide patient
autonomy to make schooled choices.

Family History: Four families, with varying clinical diagnosis came for genetic counselling.

1. Microduplication of chromosome 1in foetus followed by MTP during 19th week of pregnancy

2. Intrauterine growth retardation (IUGR) and Senior Loken syndrome (SLS) carrier status foetus -advised for
MTP in the last trimester

3. Clinical diagnosis of Alport syndrome and kidney transplantation in multiple members of the family

4. Infertile couple for 9 years after marriage. Current pregnancy showed possible trisomy 18 based on screening
test (karyotyping)-advised for MTP

Investigation: All the patients and their families who came for genetic counselling underwent clinical and genomic
NGS. A detailed pedigree was obtained from each family prior to counselling.

Result: 1. Microduplication fetus had chromosome 1 duplication at 1q21.1-1q21.2

2. IUGR/SLS fetus had carrier status(VUS copy number gain of chromosome 2q31.2 and likely pathogenic copy
number loss of chromosome 2q13.33 that gave SLS carrier status or the fetus) . This pregnancy was precious as the
couple were infertile for a while after marriage.

3. Genomic testing for Alport syndrome showed negative result.

4. NIPT test, further validated by chromosomal analysis showed negative for trisomy 18.Mother was under high
emotional stress that caused weight loss and mental trauma.

Genetic counselling: 1. Father carried almost the same duplication as the fetus and we reassured clarifying the
phenotypic effects of microduplication for future pregnancies.

2. The family was counselled that the precious child will not carry any SLS phenotype. The IUGR/SLS carrier
fetus was subsequently born with normal phenotype.

3. Since the Alport syndrome panel showed negative result, the family was provided the option of whole exome
sequencing which they chose.

4. The emotional stress of the mother was dealt with utmost care and empathy. The family continued with the
pregnancy, delivering a healthy baby girl.

Conclusion: Both the pre-natal cases discussed had unfortunate obstetric history making them even more sensitive. In
each of the above mentioned scenarios genetic counselling provided autonomy to the families to make informed
decisions and took utmost care in providing the necessary emotional and mental support to the proband and family.
Socioeconomic challenges and opportunities for genetic counsellors in providing informed
choices for optimised patient care in India
Ms Brinda Ramanathan, Deepika Karthik Kumar, Sugirdhana Parthiban Ramsait, Siddhitha Jadhav,
Meenakshi Jandhyala, Uthra Sadagopan, Govindasamy Kumaramanickavel
GenVams Trust, Chennai, India.
Smrthi Health Care, Chennai, India.
Background: The genetic counselling profession is currently at a juncture wherein its integration into
clinical practice is critical. Genetic tests are carried out in the context of diagnosing a condition in a
proband, management and rehabilitation, pre-natal options etc. This choice of tests needs to be
conveyed with a balance of providing information weighed against clinical and/or individual's needs.
Subjects from different cultures, educational backgrounds, and socioeconomic statuses understand
information provided by genetic testing or screening differently. The custom of consanguineous
marriages is prevalent in many parts of the world, wherein in India, rates vary from 1-4% in the
northern and, reaching upto 40-50% in the southern regions. Consequently, a health choice is not just
an individual decision but spans across multiple 'influencer' levels, encompassing family dynamics,
availability of insurance for genetic evaluation, laws governing medical termination of pregnancy, etc.
Our aim is to discuss here the what, when, why and why-not of genetic testing through context of our
subjects. Methods: Seven patient-families were counselled in our genetic counseling clinic at
Chennai, India, for the conditions: Stargadt's disease, retinoblastoma, family with history of cancer,
spinocerebellar ataxia, Leber's congenital amaurosis, Duchenne muscular dystrophy and primary
hypertriglyceridemia. Investigations consisted of physical examination, diagnostic laboratory tests and
genomic tests if warranted. A three-generation pedigree was charted to check for family history of the
respective conditions. Results: Genetic testing, was undertaken in a step-wise manner in the following
subjects with results: Stargadt's disease (ABCA4 gene: Likely compound heterozygous variants
causative of the reported phenotype; Exon 38, c.5371dupG (p.Ala1791GlyfsTer), pathogenic and
Exon 45, c.6193G>C (p.Asp2065His) variant of uncertain significance), retinoblastoma (RB gene:
exome sequencing, chromosomal microarray and MLPA: negative for all three), family with cancer
(cancer gene panel screen: no pathogenic or likely pathogenic variants detected), spinocerebellar
ataxia (ATXN2 gene: triple nucleotide repeats 'CAG', 28/ 44±5, pathogenic), Leber's congenital
amaurosis (RDH12 gene, homozygous missense likely pathogenic variant at exon 4, c.146C>T),
Duchenne muscular dystrophy (DMD gene: pathogenic nonsense point mutation at exon 36,
c.5114C>A, resulting in a premature stop codon). Testing was not warranted in the patient with
primary hypertriglyceridemia. Conclusion: The primary reason for a consult is in cultural and socio-
economic contexts, current health status, and psychosocial repercussions of the patient and family.
Tailored genetic counseling was rendered, that helped the families make informed choices regarding
relevant genetic testing, management and decisions towards the extended family.
Examining the Effect of Patient Personality Dimensions and Coping Styles on Outcomes of
Genetic Counselling
Areesha Salman, Emily Morris, Jehannine Austin
Department of Medical Genetics and Department of Psychiatry, University of British Columbia
Background: Both empirical data and genetic counsellors' clinical experience suggest that there are
differences between patients in terms of the outcomes they experience after genetic counselling.
Understanding the origins of these differences could be useful in making these services more patient-
centric, and ensuring that all patients benefit to their fullest potential. Although personality dimensions
and coping styles have been shown to influence patient outcomes of other psychological interventions,
there is limited information regarding whether they influence genetic counselling outcomes.
Methods: We conducted an exploratory, descriptive study to assess relationships between patient
personality dimensions and coping styles, and outcomes of genetic counselling. We recruited patients
who had been seen at a psychiatric genetics clinic and who had completed the Genetic Counseling
Outcomes Scale (GCOS, a measure of empowerment) prior to, and one month after their
appointment. Participants completed validated measures of personality (Mini International Personality
Item Pool, which measures five dimensions of personality: extraversion, agreeableness,
conscientiousness, neuroticism, and intellect/imagination) and coping style (Problem Focused Style of
Coping, which measures three coping styles: reflective, suppressive, and reactive). We assessed the
collected data using mixed-effects linear models to identify potential relationships between personality
dimensions/coping styles, time point (pre- or post- genetic counselling), and GCOS score.
Results: Of n=257 patients who met inclusion criteria and who were contactable, 169 consented to
participate (response rate = 66%). Mixed-effects linear modelling revealed that extraversion (p=0.008),
conscientiousness
(p=0.001), neuroticism (p=0.019), reflective-style coping (p=0.001), suppressive-style coping
(p<0.001), and reactive style coping (p<0.001) were significant predictors of GCOS score, but that
there was no relationship between these variables and time. For example, though a high score on
conscientiousness predicted higher GCOS scores, it did not predict greater change in GCOS - rather
the relationship between conscientiousness and GCOS was stable between timepoints - people with
higher scores on this dimension of personality had higher GCOS scores both pre- and post- genetic
counselling.
Conclusion: These preliminary data suggest that, unlike other mental health interventions, genetic
counselling is effective in increasing empowerment among patients of all studied personality types and
coping styles.
A case report of novel mutation in the ROGDI gene: Kohlschütter- Tönz syndrome
Ms Iram Sehrish, Dr. Sunitha Tella, Dr. A Venkateshwari
Student
Background
Kohlschütter-Tönz Syndrome(KTZS) is a rare neurological disorder characterized by seizures,
developmental delay, psychomotor regression, hypoplastic dental enamel morphology indicative of
amelogenesis imperfecta and dysmorphologies. The incidence of KTZS is approximately one in one
million, with an autosomal recessive inheritance pattern.
Case report
A three-year-old male child born to a consanguineous couple with a bad obstetric history presented
with developmental delays and seizures and on clinical examination no dysmorphic characteristics
were observed .
Result
Whole exome sequencing revealed a novel pathogenic homozygous nonsense mutation in the RODGI
gene.
Conclusion
To conclude here we report a novel homozygous case of RODGI gene mutation with consistent
phenotypic characteristic of Kohlschütter-Tönz syndrome with emphasizing the need of carrier
screening, prenatal diagnosis and genetic counseling in rare neurodegenerative disorder.
Affective meanings about inheriting and transmitting transthyretin-related familial amyloid
polyneuropathy
Nádia Seidi1, Marta Patrão2, Sara Guerra1, Carla Oliveira1,3, Liliana Sousa1 & Álvaro Mendes3,4
1 Department of Education and Psychology, Cintesis.ua, Universidade de Aveiro, Portugal; 2
Departament of Social, Politics and Territory Sciences, GOVCOPP, Universidade de Aveiro, Portugal;
3 UnIGENe, IBMC – Institute for Molecular and Cell Biology, i3S – Instituto de Investigação e
Inovação em Saúde; Universidade do Porto; Portugal; 4 CGPP – Centre for Predictive and Preventive
Genetics, IBMC – Institute for Molecular and Cell Biology, i3S – Instituto de Investigação e Inovação
em Saúde; Universidade do Porto; Portugal
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant and highly
penetrant late onset neurological disease. Symptoms are clinically heterogeneous, progressive and
very incapacitating, leading to severe motor impairment, dependency and premature death. No
effective cure is yet available, but some therapeutic measures may slow down disease progression.
Northwestern Portugal is the largest cluster of TTR-FAP patients worldwide. Hereditary diseases may
be considered as family legacies both in biological and psychosocial terms. The biological legacy has
been widely studied; however, less attention has been paid to the psychosocial understanding of this
legacy.
This exploratory qualitative study adopted the Portuguese version of the Self-Confrontation Method to
explore the affective meanings that TTR-FAP gene-positive carriers attach to this biological/genetic
legacy. We focus their valuations on inheriting the disease-gene and (potentially) transmitting it to their
descendants. Four participants (aged ≥ 45; 3 men; all symptomatic and with children), recruited by the
TTR-FAP patients' association, took part in the study. Participants' valuations were analysed
thematically and PNOS indexes were calculated to characterize affective patterns.
The participants formulated 36 valuations attached to the positions of "receiver" (21) and "transmitter"
(15) of the TTR-FAP gene. The valuations mostly showed negative affective patterns (26 out of 36) in
both positions. The position of "receiver" comprised both negative (aggression and rage; impotence
and isolation) and positive (mainly autonomy and success) affective patterns; while the position of
"transmitter" was predominantly attached to negative affective patterns (impotence and isolation).
Findings also showed that connectedness with others was not formulated, whereas -a sense of loss
was only formulated in the "transmitter" position; valuations involving autonomy and success and
aggression and rage were formulated only from the "receiver" position. When formulated in the
position of "receiver", the focus was mainly self-centred, while when in the position of "transmitter" the
focus was mainly towards the other (usually children and grandchildren). Furthermore, the content
analysis of the valuations generated three themes (awareness, diagnosis, and treatment and
adaptation), which highlight the key moments in the process of adaptation to TTR-FAP. These results
contribute to a better understanding on the affective and relational processes associated with the
legacy of a severe, progressive and incurable genetic disease. It is also relevant to inform genetic
counselling services and professionals about the feelings and concerns that accompany these
patients.
Multisite assessment of the impact of a prenatal testing educational App on patient knowledge
and preparedness for prenatal testing decision making
Ms Patricia Winters, Kirsten J Curnow 1, Alexandra Benachi 2, Maria Mar Gil 3, Belen Santacruz 3,
Miyuki Nishiyama 4, Fuyuki Hasegawa 4, Haruhiko Sago 4
1. Illumina, Inc. San Diego, CA
2. Obstetrics and Gynecology Department, Hôpital Antoine Béclère, AP-HP, Université Paris
Saclay, Clamart, France
3. Obstetrics and Gynecology Department, Hospital Universitario de Torrejón and School of
Medicine, Universidad Francisco de Vitoria, Madrid, Spain
4. Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child
Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
Objective: Increasing availability of noninvasive prenatal testing (NIPT) has underscored the need for
novel methods of prenatal counseling. We assessed the impact of use of a patient educational App on
patient knowledge about NIPT and preparedness for prenatal testing decision making.
Methods: We implemented a randomized control study at three international sites between January
2019 and October 2020. Study participants completed a pre-consultation survey and post-consultation
survey to assess knowledge, satisfaction, and preparedness for prenatal screening consultation. In the
control arm (routine care), the pre-consultation survey was completed prior to consultation with their
prenatal care provider. In the intervention arm (app in addition to routine care), the pre-consultation
survey was completed after using the app-based tool but prior to consultation with their prenatal care
provider. Participants in both arms completed the post-consultation survey following consultation with
their prenatal care provider. Providers subjectively assessed patient preparedness and knowledge
following consultation with the participant.
Results: Overall, 203 participants were included in the analysis. Mean knowledge scores in the
participants using the app (intervention arm) were significantly higher both pre-consultation (p<0.0001)
and post-consultation (p<0.005) than those in participants not using the app (control arm). Higher pre-
consultation knowledge scores in the intervention group were observed at all sites. Most (86%)
participants using the app stated they were "Satisfied" or "Very Satisfied" with the patient educational
app as a tool. Providers rated women in the intervention group with higher preparedness scores than
the control group (P=0.027); provider assessment of knowledge was not significantly different between
the groups (P=0.073).
Conclusions: Clinical implementation of a patient educational app in a real-world setting was feasible,
acceptable to pregnant women, and positively impacted patient knowledge.
Genetic Counsellor Lessons Learned during Mackenzie’s Mission – the Australian reproductive genetic
carrier screening study

Ms Samantha Edwards, Jillian Kennedy, Alison Archibald, Kristine Barlow-Stewart, Kirsten Boggs, Tenielle
Clinch, Isabelle Danos, Camron Ebzery, Lara Fitzgerald, Lucinda Freeman, Madeleine Harris, Katrina Harrison,
Clare Hunt, Anaita Kanga-Parabia, Kate Scarff, Lauren Thomas, Martin Delatycki, Edwin Kirk and Nigel Laing

The University of Western Australia, Harry Perkins Institute of Medical Research, Genetic Services of WA,
Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Women's and Children's Health
UNSW, University of Sydney, Genetic Health Queensland, Tasmanian Health Service, Sydney Children's
Hospital Randwick/Westmead, Women's and Children's Hospital (South Australia), PathWest Laboratory
Medicine

Mackenzie's Mission is an Australian reproductive genetic carrier screening (RGCS) research study offering free,
expanded RGCS to over 8000 couples pre-conception or during early pregnancy. As a couple-based program,
both biological parents are screened concurrently for ≈1300 genes underlying ≈750 serious, childhood-onset
conditions. The couple receive an 'increased risk' result if both carry the same autosomal recessive condition or
the female partner carries an X-linked recessive condition. Couples are invited to participate by their healthcare
professional (HCP) including GPs and obstetricians. Couples are educated and consented to the study and the
screening test via an online participant portal. Couples and recruiting HCPs can access additional advice
through a dedicated hotline forwarded to the study's national genetic counsellor team (GCT).

In addition to staffing the hotline, the GCT have developed the education and consent resources for participants
and HCPs, recruit and manage the HCPs, monitor and facilitate participant enrolment and return of samples to
the laboratories. They review participant reported family history, contribute to the weekly variant review
committee, deliver increased-risk results and more. Here, we summarise lessons learned from the GCT's
experiences in developing, implementing and operating Mackenzie's Mission since 2019.

The GCT were surveyed using open-ended questions exploring their experiences of offering a national RGCS
program, how the Covid-19 pandemic impacted their role and what they envision for nationwide accessible
RGCS beyond the study. Survey responses were thematically analysed by the research team.

The survey had 16 respondents with involvement spanning a few months to almost 3 years and responsibilities
from post-test counselling only, to all aspects of the study. Responses indicate that the GCT value collaboration
greatly and working on a national team with laboratories, clinicians and non-genetic HCPs has been both
rewarding and educational. Alternative modes of communication including telehealth, text and online education
were considered highly favourable throughout all aspects of RGCS delivery. One of the most challenging but
rewarding aspects of the study is counselling preconception and pregnant couples surprised to be identified as
increased risk, with some couples eligible for a study-funded round of PGT. Participants also highlighted that
within the context of screening a couple, tackling the expected and unexpected flow-on effects to family
members can be complex. Participants recognise that offering RCGS at population scale is a complicated
undertaking and particularly challenging finding a balance between the desired level of service and the resource
and feasibility limitations within which the GCT operate.
Genetic Testing reveals novel mutation in SIX6/TTC8 Gene causing Bardet-Biedl Syndrome-8:
A Case Report
Miss Aayushi Gupta, M.Sujatha, A.Venkateshwari
Institute of Genetics and Hospital for Genetic Diseases, Hyderabad, India
Background-
Bardet-Biedl syndrome-8 is an autosomal recessive developmental abnormality. It is a heterogeneous
disorder with linkage to eight loci and the product of these eight loci genes form a stable octameric
complex and is known as the BBSome. Whereas these Seven complex unit (BBS1, 2, 4, 5, 7, 8, and
9) of BBSome code for proteins and their function involves ciliary membrane biogenesis. When the
mutation occurs in BBS8 it leads to severe reduction of rod and cone photoreceptor function and
progressive degeneration of each photoreceptor subtype. This is the novel mutation case seen in
India.
Case Description- We report a case in which a couple's first male child succumbed within 10 hours of
birth due to respiratory distress, congenital heart defect and undescended testis. Her second
pregnancy was male child expired in 30 days due to congenital diaphragmatic hernia. Her third
pregnancy 5-year old female child (Index case) found to be affected with several clinical indications. At
the time of prenatal genetic counseling, she was 6 months pregnant.
Result- Whole-exome sequencing of the index case revealed two variants SIX6 and TTC8 gene. In
SIX6 gene homozygous single base pair deletion in exon 1 results in a frameshift and premature
truncation of the protein. These same variants were detected in heterozygous state in parents.
Whereas in the second variant TTC8, heterozygous single base pair deletion in exon 10 results in a
frameshift, and premature truncation of protein and is responsible to cause Bardet-Biedl syndrome 8
and Retinitis pigmentosa 51.The Clinical Exome Sequencing for the parents showed mutation in SIX6
in Exon 1with variant c.188del, responsible for the optic disc anomalies with retinal or macular
dystrophy whereas in TTC8 gene mutation in Exon 10 with variant c.793del which is responsible for
Retinitis pigmentosa 51;Bardet-Biedl Syndrome 8. Prenatal Sanger Variant analysis is being
evaluated with the same variation (to be sibling of the index patient) was seen in the Exon 1 of SIX6
gene detected in the fetus of mother, and Exon 10 of the TTC8 gene were not detected in the fetus of
the mother.
Conclusion- An early diagnosis allows for adequate genetic counseling and follow-up.
KEYWORDS: Retinitis pigmentosa 51, Bardet-Biedl Syndrome 8, whole-exome sequencing, Clinical
exome sequencing, Sanger variant analysis.
Optimal development and Birth outcomes of fetus in high-risk pregnancy
Ms Garvita Kharbanda, 1 Garvita Kharbanda, 1a Vidisha Bardia , 2 Sirimavo Nair
1 PhD Student, 1a M.Sc. completed, 2 Professor
Department of Foods and Nutrition, Faculty of Family and Community Sciences, The Maharaja
Sayajirao University of Baroda, Vadodara, Gujarat
Introduction: Nutrition is a vital component of fetal development. Maintaining an amino acid rich diet
prior to conception and during pregnancy is essential because development of baby depends on
availability of nutrients during embryonic stage. Pregnancy is characterized by drastic changes in the
maternal metabolism to support growing fetus. Maternal nutrient availability and the transport of
nutrients to the fetus directly depends on the maternal metabolism, endocrine status of the mother, her
partitioning of nutrients between storage, utilization or circulation, cardiovascular adaptations during
pregnancy and ability of placenta to transport nutrients. Insufficient nutrient supply and improper
mechanism directly contributes to decreased fetal growth, leaving a permanent memory on the
epigenetic state of the fetal genome, further resulting in various metabolic disorders leading to
congenital anomalies and lethal genetic disorders. Thus, there is a direct link between maternal
nutrition and fetal programming.
Aim: To observe birth outcomes of the babies born to a group of high-risk pregnant mothers who were
supplemented with amino acids at a trust-based hospital at Vadodara.
Methods: Pregnant mothers who have undergone US examination were enrolled. High risk pregnant
mothers were identified and Anthropometry was carried out. After proper counselling to the mothers
and caretakers, these mothers were supplemented with essential amino acids for four months from
enrollment period.
Results: As a result of proper counselling, out of 53 high risk pregnant mothers, 22 mothers consented
and were given supplementation of essential amino acid. Comparison of anthropometric
measurements along with APGAR scores of the babies born from supplemented and non-
supplemented group of high-risk pregnant mothers was carried out. The birth weight, length, head
circumference and APGAR scores in the babies born from supplemented group was better than
mothers who didn't receive essential amino acids supplementation.
Conclusion: The results proved that supplementation of essential amino acids which was an outcome
of proper counselling helped in forming the appropriate development of fetal brain which was
indicative by normal growth pattern than compromised due to deficiencies.
Building a Genetic Counseling Community in the 6th Largest US State
Ms. Rachel Mador-House
Arizona Genetics Alliance
Arizona is the sixth largest and fourteenth most populated U.S. State and yet has a surprisingly low
number of Genetic Counselors. In 2019 there were only 22 reported Genetic Counselors according to
the NSGC Professional Status Survey and that number increased to only 27 in 2021. In an effort to
increase opportunities, organize the community, and create a strategic plan prioritizing the goals of
genetics professionals in the State, the Arizona Genetics Association (AGA) was created and that is
where my story begins.
I am a Canadian citizen who was trained as a genomics researcher in Canada and as a genetic
counselor in California. When I came to Arizona, I right away recognized a lack of a formal genetics
association and saw the value such a group could bring to the State. I began by compiling a list of all
genetic counselors in the state and compiled their contact information. From there, I sent out an
expression of interest to the community looking for volunteers to join a working group aimed at
formalizing a genetic counselor association. The working group created a survey for the community
which helped to provide direction as to the goals and priorities of the community. These priorities were
used to establish the formal AGA as an NSGC State chapter as well as establish 5 committees to
further the directions outlined as priorities by our community. Being an international genetic counselor
with diverse experiences allowed me to identify an area of opportunity within the state and leaning into
a leadership role has resulted in the establishment of the non-profit Arizona Genetics Alliance, a full
day educational conference and a number of new opportunities for genetic counselors within the
State. As a genetic counselor who is relatively new to the field I was uncomfortable leading this
process and I hope to encourage and inspire other young women to pursue leadership opportunities,
identify areas for improvement, and lean into experiences that make us unique and provide us with
differing perspectives.
Genetic Counselling in Usher Syndrome Changing Scenarios in the Genomic Era in India
Ms. Swathi Sampath Kumar, Sunita Mohan, Sugirdhana Parthiban Ramsait, Uthra Satagopan,
Govindasamy Kumaramanickavel
MYGENEDx. PVT.LTD. Chennai, TN, India; MGM New Bombay Hospital, Vashi, India; GenVams
Trust, Chennai, India
Usher syndrome (USH), a clinically and genetically heterogeneous disorder with an autosomal
recessive pattern of inheritance is characterized by hearing loss, retinitis pigmentosa (RP), and
occasionally vestibular dysfunction. To date, more than ten causative genes have been identified that,
correspond to the different types of USH, including MYO7A, USH1C, CDH23, PCDH15, USH1G,
CIB2, USH2A, GPR98, DFNB31, HARS, PDZD7, CEP250, ADGRV1, WHRN, and CLRN1. Genetic
testing and genetic counselling are potential tools in the management of such rare genetic conditions
and also provide information about the genetic nature of the condition to the affected people and their
families to make an informed decision for the future. In this genomic era, technologies like Next
Generation Sequencing (NGS) are contributing to the establishment of early diagnosis with their
accurate results, thereby helping in improved genetic counselling. Though plethora of literature are
available in regards of Genetic counselling for various genetic conditions, to the best of our
knowledge, there is a dearth of literature on genetic counselling in USH, and hence this report. Here,
we present a report of six USH subjects to emphasise the role of genetic counselling in the post-
genomic era. For all our subjects, ophthalmic and auditory reports were evaluated and genetic testing
was carried for clinically actionable cases. The genetic test results revealed a homozygous nonsense
variation in GPR98 gene (exon 78, c.16705G>T) along with a variant of uncertain significance in
USH2A gene (c.9110G>G/A) in one of the probands and a homozygous nonsense pathogenic
variation in GPR98 gene (exon 70, c.14329C>T) in another proband confirming the clinical phenotype.
All subjects were informed on the natural course of condition. Subjects with a history of consanguinity
were informed on the autosomal recessive risk due to consanguineous marriages, giving autonomy
choice to the patient and the family. During counselling, we found the concerns of the subjects were
focused on the risk of next-generation getting affected, which advocates the need for pre-marital and
preconception counselling in the patient population. Furthermore, mutation of GPR98 gene which, to
the best of our knowledge not reported in any literature in Indian population so far, was also found in
our subjects. In conclusion, with the profession of genetic counselling still evolving in many parts of the
world including India we strongly believe that our report will be of importance to genetic counsellors
and other healthcare for improved diagnosis and counselling of patients, augmenting the current
healthcare practice.
Inherited conditions in donor conceived offspring: Is screening proportional or a missed
opportunity for risk reduction? A two-year retrospective evaluation across four commercial
overseas donor banks.
Dr Valerie Shaikly, Karen Sage, Pamela Callum
Fertility Genetics, Tandem Genetics
Donor gamete facilities provide various levels of genetic screening of donors. Testing should be
proportional and undertaken with the key message that avoiding all risks is impossible but mitigation of
risk is desirable. A retrospective review of donor alert notifications from four donor banks over a three
year period were reviewed according to the mode of inheritance and burden on the donor conceived
offspring, their parents and extended family.
Concerns for 12 alerts identified were: recessive carrier status in the donor that matched a recipient
(n=5), a dominant condition associated in a gene alteration in the donor (n=1), multifactorial
inheritance and genetic cause not ascertained (n=5), the donor was found not to carry the mutation
associated with the condition in the child, de novo event (n=1). Subsequent use of donors was
suspended during investigations, which can often be prolonged and inconclusive. Donors where a
multifactorial or single gene risk was confirmed were blocked for new conception use, with sibling use
permitted with appropriate testing and genetic information provision. From an initial alert to
investigation closure, the time frame ranged between two months to three years, most within one year.
Gamete recipients, often pregnant or with young babies, reported anxiety and concern around
receiving alerts and waiting for further information. This was augmented by delayed plans to continue
with creating their families using donor samples or embryos in storage.
These findings indicate opportunities exist for risk reduction for recessive conditions and the burden
on patients can be reduced. This retrospective review may not be an accurate reflection due to
underreporting by recipients, or delays with time to diagnosis, not wanting to reveal gamete donation
or not knowing that reporting could be an option. Qualitative interview studies with thematic analysis
are required with corresponding qualitative data from donor banks to monitor the frequency of alerts
and recipients affected. Clinics should provide or have access to professional support for their patients
in the event of an alert notification.