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NEWBORN SCREENING

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NEWBORN SCREENING
Consultative and Policy Meet

Organized by National Neonatology Forum

SEPTEMBER 22, 2015

INDIA HABITAT CENTRE, NEW DELHI
Table of Contents

Abbreviations ......................................................................................................................................... 2
Introduction ............................................................................................................................................ 1
Executive summary ................................................................................................................................. 2
Context ................................................................................................................................................... 4
Meeting proceedings .............................................................................................................................. 5
Opening ceremony.............................................................................................................................. 5
Technical sessions ............................................................................................................................... 8
Parent advocacy groups .................................................................................................................... 18
Key recommendations .......................................................................................................................... 18
Way forward ......................................................................................................................................... 19

Annexures
 Attendees
 Agenda

1
Abbreviations

ANM – Auxiliary Nurse Midwife MoHFW – Ministry of Health and Family

Welfare
ARC – ASHA Resource Centre
MCTS – Mother and Child Tracking System
ASHA – Accredited Social Health Activist
NBS – Newborn Screening
CAH – Congenital Adrenal Hyperplasia
NBSU – New Born Sick Unit
CDC – Centre for Disease Control
NBCC – Newborn Care Corner
CH – Congenital Hypothyroidism
NHM – National Health Mission
CHC – Community Health Centre
NMR – Neonatal Mortality Rate
DBT – Department of Biotechnology
NNF – National Neonatology Forum
DEIC – District Early Intervention Centres
NRHM – National Rural Health Mission
FOGSI – Federation of Obstetric and
PHC – Primary Health Centre
Gynaecological Societies of India
PIP – Programme Implementation Plan
HBNC – Home Based Newborn Care
PKU – Phenylketonuria
G6PD – Glucose-6-Phosphate Dehydrogenase
PPP – Public Private Partnership
IAP – Indian Academy of Paediatrics
RBSK – Rashtriya Bal Swasthya Karyakram
ICMR – Indian Council of Medical Research
RKSK – Rasthriya Kishori Swasthya Karyakram
IEM – Inborn Errors of Metabolism
RMNCH+A – Reproductive, Maternal, Newborn,
IMR – Infant Mortality Rate
Child and Adolescent Health
INAP – India Newborn Action Plan (INAP)
SOP – Standard Operating Procedure
IRT – Immuno-Reactive Trypsinogen
SDGs – Sustainable Development Goals
JSSK – Janani Shishu Suraksha Karyakram
SHG – Self-Help Group
JSY – Janani Suraksha Yojana
SNCU – Special Newborn Care Units
MCH – Maternal and Child Health
TAG – Technical Advisory Group
MDGs – Millennium Development Goals
UT – Union Territory
MERD – Metabolic Errors and Rare Diseases
UNICEF – United Nations Children’s Fund
Conference of India

2
Introduction
Newborn Screening
Newborn screening (NBS) is a public health programme designed to screen babies soon after their birth to
determine if s/he is affected by an inborn error of metabolism, symptoms of which might not be apparent at birth,
so that they can begin treatment right away. As part of this procedure, babies are tested within 48 to 72 hours of
their birth, by making a pinprick puncture in the heel and collecting a blood sample on pre-printed collection cards.
In most cases, these babies look normal and healthy at birth and only begin showing symptoms a few weeks or
months later.

As NBS is still nascent in India, there is limited data around the prevalence of IEMs and the impact of NBS in
reducing child mortality. However, some niche research studies and peer reviewed papers have been useful in
understanding the incidence rates of select disorders, albeit in a small geographic radius.

In India, the diseases that are found to have a sizeable prevalence are CH, G6PD deficiency and CAH, amongst
others. If undetected, these may lead to developmental delays (including severe mental retardation), severe
jaundice and even death in certain cases. If babies test ‘at high risk’ for any of the conditions screened for, they are
referred for further confirmatory tests.

Newborn screening runs as a mandatory and universal public health programme in developed and many
developing countries around the world. While there are more than 50 potential disorders which can be screened
for, most countries choose to screen babies for a smaller subset depending on the incidence/ prevalence of
specific disorders in their countries.

National Neonatology Forum (NNF)

The National Neonatology Forum (NNF) came into existence in 1980 through the initiative of a handful of leading
paediatricians working in the field of neonatology in India. In 2011, NNF released a set of guidelines to implement
NBS in India. The guideline are available as CPG (Clinical Practical Guideline) on nnfi.org

Following are the objectives of NNF:

- To encourage and advance the knowledge, study and practice of the science of neonatology in the
country
- To draw out recommendations for neonatal care at different levels
- To establish liaison with other professionals concerned with neonatal care
- To assess the current status of electronic equipment being used in the country for perinatal care
- To promote indigenous manufacturing of the equipment; to develop neonatal component of the
curriculum for medical as well as nursing teaching
- To organize conferences, training’s, workshops etc.
- To promote neonatal care in the country

Dr. Ajay Gambhir is the current President of National Neonatology Forum, India, based out of New Delhi.

1
Executive summary

The National Neonatology Forumhosted a day-long Newborn Screening Policy and Consultative Meeting atthe
India Habitat Centre, New Delhi on 22 September 2015. The discussion saw participation from the federal
government and various state governments, representatives from multilateral organizations, leading
neonatologists, NBS practitioners, NGOs and parent advocacy groups from across the country.

Dr. Gagan Gupta, Health Specialist at UNICEF graced the event as the Guest of Honor, on behalf of Dr. Rakesh
Kumar, Joint Secretary, Ministry of Health and Family Welfare, and in his addressurged the medical fraternity to
initiate a newborn screening programme for India under the leadership of the National Neonatology Forum.

Programme heads and technical experts both from the medical as well as administrative functions in the
government shared with the group experiences, challenges and recommendations for implementing a NBS
programmes in the country. The following attended.

Dr. Roli Mathur, Scientist E, from ICMR shared insights onher NBS project, which ran for 5 years as an ICMR study
and detailed the challenges in carrying out sampling for 1 lakh babies across the country. Dr. Gurjit Kaur,
Consultant Incharge, Depart of Genetic Centre at GMCH-32 discussed her experience of initiating NBS in
Chandigarh and the process involved in converting it into a UT-endorsed public health programme. She detailed
some of the key modifications made by the NBS team in Chandigarh in combatting issues regarding lack of
awareness, follow-ups, consent and logistics, in order to successfully run the programme. This was juxtaposed by
Dr. Harsh Shah’s presentation via audio-conference on his experience on Gujarat’s NBS model – outsourced by the
state to a private agency Dr. Lal Pathlabs – and the reasons for its discontinuance.

Dr. Amar Fettle, Nodal Health Officer for the State of Kerala,spoke about the status of the Newborn Screening
programme in Kerala which is now a part of the public health system and has been successful in overcoming the
various odds including lack of human resources and the uncertainty of state funding. Similarly Dr. Seema Kapoor,
Associate Professor at Maulana Azad Medical College and Dr. B.K. Thelma, Professor at the Department of
Genetics, University of Delhi, also spoke about their NBS project in Delhi, the success it has achieved and how they
envisaged the project. They noted that a public private partnership was the way forward to implement NBS as a
full-fledged programme in the capital, which would provide epidemiological data and build a solid research base
for rare diseases in India.

Describing his experiences in helping treat rare diseases in Rajasthan, Dr. Ashok Gupta, Superintendent of JK Lone
hospital, detailed how an NBS programme would help parents and doctors understand the cause of various rare
diseases which are a result of genetic errors. Mr. Vikas Bhatia, the convener of Metabolic Errors and Rare Diseases
Organization of India, a parent advocacy group, described his experiences helping parents come to term with
children who have rare diseases. He mentioned the need for better awareness around these diseases as well
opening up the Indian market for dietary supplements for such children.

There was a unanimity amongst the various experts and doctors that had gathered at the policy roundtable that
there is an urgent need to implement a Newborn Screening programme in India, to help improve neonatal care. As
a first step towards this direction, the group agreed that the creation of standard operating guidelines and

2
identifying the next generation of newborn screening champions are the most urgent building blocks in this area. It
was also decided that a white paper on NBS would be produced which would be presented to the Government of
India to draft the NBS policy. In this regard, it was decided that Dr. Ajay Gambhir and Dr. Seema Kapoor would
meet with Joint Secretary Dr. Rakesh Kumar and discuss the issue to implement the same.

3
Context
Newborn Screening is a deeply embedded public health programme in most developed and a few developing
countries around the world. Till date more than 486 million babies have been screened for IEMs globally.(Sources:
Industry reports. Since the early 1980s, several attempts have been made to initiate newborn screening programmes
in India, but till the early 2000s, the programmes launched ran into many challenges that perhaps stemmed from
the lack of a comprehensive approach toward NBS, the lack of scientifically proven statistical data, inadequate
government funding and little awareness around the fact that many of the conditions found in India, if detected
and treated early enough, can allow those afflicted to live a reasonably normal life.

However, several NBS projects conceived and initiated more recently – those in Chandigarh (Union Territory) and
states like Delhi, Kerala and Karnataka - are running reasonably well today.

The programme also received a major fillip in 2013 with the launch of the Rashtriya Bal Swasthya Karyakram
(RBSK) for the early identification and early intervention for children from birth to 18 years covering defects
at birth, deficiencies, diseases and development delays including disability. The scheme has made provisions,
albeit optional in nature, for the inclusion of newborn screening of Congenital Hypothyroidism and Sickle Cell
Anemia depending on the capacity of individual states. The subsequent launch of the India Newborn Action Plan
(INAP) in September 2014– an approach paper developed in association with UNICEF, USAID, Bill and Melinda
Gates Foundation, WHO, Save the Children, IAP, NIPI, NNF, Department for International Development and UN
Population Fund – also brought to the fore the need to move beyond easily achievable neonatal mortality goals
and to focus on issues around neonatal morbidity.

While a robust ecosystem is being built gradually to scale up NBS through government programmes and civil
society action groups, it is important to raise awareness amongst the medical fraternity – neonatologists,
paediatricians, geneticists and paramedical staff – on the need for NBS across India. This was also identified by the
federal authorities during a meeting that the International Newborn Screening Delegation had with the
Department of Biotechnology, Ministry of Science and Technology in February this year. Additionally there is an
increasing felt need expressed by experts and programme implementers across states for a standardized operating
guideline on NBS which could be then adopted by states and customized to their local requirements on ground.

At the above mentioned meeting, it was suggested that a roundtable should be conducted by a prominent
organization in the field of neonatology, to identify a list of potential mentors and mentees specializing in the field
of NBS and initiate the drafting of operational guidelines for NBS implementation. Given that NNF pioneered
efforts to create standardized guidelines for Newborn Screening, the organization subsequently took the lead on
hosting this important Policy and Consultative Meeting.

Roundtable objectives
1. To craft a standardized operating guideline for implementing NBS programmes in the country
2. To Identify the next generation of NBS champions in India at the federal and state level

4
Meeting proceedings
Opening ceremony

Lighting the lamp; Felicitation of the Chief Guest and other special guests
Dr. Ajay Gambhir, President, National Neonatology Forum of India

The opening ceremony was led by Dr. Ajay Gambhir, President, NNF India. He invited the esteemed guests – Dr.
Siddharth Ramji, Professor of Neonatology, Dr. Maulana Azad Medical College; Dr. Renu Srivastava, National SNCU
Coordinator, Child Health Division, Ministry of Health and Family Welfare; Dr. Gagan Gupta, Health Consultant,
UNICEF and Dr. Madhuri Hegde, Director, Emory Genetics Lab – to the dais and opened the conference with the
traditional lighting of the lamp. He then recounted his experience with Newborn Screening since 1984 and with
formulating the clinical protocol guidelines for newborn screening that drew out the framework for universal
screening in a phased manner. He noted Dr. Ramji’s efforts in preparing the NNF guidelines which was launched in
2011. According to the guidelines, NNF recommended that newborn screening could be implemented in phases
which can be divided into three groups: Group A – Screen for CH, CAH and G6PD; Group B – Expand the panel to
include 5-10 diseases and Group C – Expand the panel to include 50-200 disorders.

He was hopeful that the Policy and Consultative Meeting would lead to a concrete output on the way forward for
NBS in India. Following this, the panel shared their opening remarks as well.

The sections detailing the deliberations below are presented in the order of speakers at the meeting:

5
Dr. Siddharth Ramji, Proffesor, Neonatology, Maulana Azad Medical College

Running a Newborn Screening programme in India: Insights and experiences

In his opening comments, Dr. Ramji shared his views on some of the policies and programmes started by the
Government of India, which have a clear focus on newborn health. He spoke of the RBSK Programme as one that
integrates newborn screening into the child health screening initiatives. Further to this, he added that a task force
on newborn screening was set-up by the government earlier in the year but was concerned that it had not been
able to convene as planned and was yet to set out any clear recommendations and action points.

He suggested that NBS should be modeled as a public health programme and “not in the realms of standalone
medical institutions” as it was a challenge to steer a large state wide programme such as this. In most places in the
country for e.g., Kerala, it runs a public health programme where implementation of the ownership lies with the
public health labs of the state.

He said Federal led programmes are perceived to be prescriptive in nature by the States, but advised that they be
given the freedom to adopt these programmes based on their individual capacities and sense of urgency.
Commenting on the implementation model of newborn screening programmes, he said, now that the best
technologies for carrying out these tests were available. In order to be able to maintain high quality standards and
be cost effective, these programs should ideally be centralized in nature like in the United States and other
developed nations. He was very clear in stating that it was difficult to scale such a large programme to the whole
state at once and the best way to start and scale up such an initiative was to initiate it in a comparatively large city,
extend it to neighboring districts and then to the whole state. He was of the view that states should also initially
focus on identifying what disorders and sample size they were comfortable dealing with at the start.

The only challenge that he anticipated was with regard to managing the centralized lab sample transportation,
which was an area that he felt the government would need some technical support around. He maintained that
there was a need to demystify NBS because it was perceived to be very technology-intense and there were certain
reservation on the part of public health professionals regarding the states adopting them seamlessly.

Discussions and recommendations

As a clear recommendation, Dr. Ramji and other senior members in the group suggested that the Government of
India’s Task Force on NBS should ideally formulate by December 2015 a guideline on how to implement and scale
up NBS in India, and alongside also lend handholding support to states, which are running or keen to run a
programme as and when required. These guidelines should provide states a set of guidelines on how to implement
newborn screening programmes and request budgets from the Centre under Programme Implementation Plans for
the same. He also emphasized that one of the key outputs of the consultative meet should also be to produce a
working document laying out options for setting-up an NBS programme in India, within the purview of RBSK and
Early Intervention Centers.

6
Dr. Renu Shrivastava, Child Health Division, MOHFW

Newborn Screening and Rashtriya Bal Swasthya Karyakram: Government’s Perspective

Dr. Renu Srivastava noted that RBSK

dealt with deficiencies, defects, diseases
and delays. She discussed the types of
defects –visual defects which you can
see just by inspection, defects which
require an instrument for diagnosis and
birth defects which require some kind of
lab-work and either cord or capillary
blood to undertake the test. She said
that the long-term benefits of detecting
IEMs like CH and haemoglobinopathies
could be cost-effective and help parents
manage the disease better. Hence they
were also included under the diseases screened under the RBSK scheme. She added that any guidelines made by
the Ministry were only meant to be indicative as health is a state subject and each one had different realities.

Discussions and recommendations

Dr. Srivastava made a few key recommendations in order to ensure newborn screening is widely accepted among
medical professionals and patients. She stressed the importance of demystifying screening not only for doctors but
for parents of patients as well. She also discussed how many disorders should be screened and the importance of
providing a framework for states to carry out the programme depending on their facilities. She also addressed the
issue of seeking parents’ consent for NBS or making it mandatory, adding that once parents saw the benefit of the
programme there wouldn’t be questions asked about the programme.

Dr. Gagan Gupta, Health Specialist, UNICEF

NBS in the era of the SDGs

Dr. Gagan Gupta drew the audience’s attention to the timing
of the Roundtable, as world leaders were meeting in New
York to finalize the Sustainable Development Goals (SDGs).
“We have finished an era of Millennium Development Goals
(MDGs) where the focus was on mortality and survival. As we
move from MDGs to SDGs, we can think beyond survival to
think of growth, development and other parameters”, he
said. Since the 1990, institutional deliveries have gone up by
80% in India. Therefore, a large number of newborns can
definitely be screened by effective tracking at the delivery
centre. He concurred with earlier speakers’ suggestions that
newborn screening should be looked at as a holistic

7
programme and not an isolated blood test. He suggested that an organization or body like NNF should take the
lead on supporting the operationalization of NBS in the country and host similar consultative meetings in a planned
manner going forward, which could provide clear recommendations to the states.

Discussions and recommendations

Dr. Gupta advised that India needed a robust monitoring system of the neonatal database under the RBSK
programme in order to capitalize on institutional deliveries. He highlighted the need to build out a newborn
screening programme embedded with therapy options as well so as to support the management of the disorders.
He proposed that NNF India take the lead on drafting guidelines to implement an NBS programme in India and
facilitate the participation of various partners as well. He suggested putting together a Task Force to take action on
the outcomes of the meeting and suggested that we start with a few SNCU’s in a few districts in next year’s PIP. He
recommended charting a more detailed plan of action after this initial pilot that would be taken up by various
states.

Technical sessions

Dr. Roli Mathur, Scientist E, Indian Council of Market Research

IEM Incidence-Indian data: ICMR Multi-centric study experience

Dr. Roli Mathur briefed the audience about her experience

with the newborn screening project undertaken by the
ICMR. The study focused on disease – CAH and CH – for
which treatment, intervention or prevention was possible
and the reduction of severity due to diagnosis would be
useful and follow up services like management of the
disease, parent counselling could be built into it. It is also
cost-effective to treat these disorders, so once they were
diagnosed, it was possible to do proper justice to these
babies who were identified to be affected.

Dr. Mathur discussed the process followed to implement

the project. ICMR identified 5 regional centres – North,
West, East, South and Centre – to carry out NBS, in addition
to one high-risk screening centre, one for data collation and
coordination and another for quality assurance. The study sampled 1 lakh babies with 20,000 samples from each
centre. Informed consent was sought from all parents and there was a provision to refuse testing if they didn’t
want to share samples. The project took privacy and confidentiality issues into account through an effective coding
system and samples were stored for possible later use as well. Families were given genetic counselling and also
possibilities of pre-natal diagnosis were discussed. To ensure the best quality standards, all the regional centres
had to send weekly reports to the centre and the labs had external quality certification for the labs from CDC
Atlanta.

She discussed the challenges that the project faced including the inability to measure the cost-efficiency of running
NBS in India and management of the samples after the study ended. There was limited awareness among the
medical fraternity and research teams in some government hospitals faced resistance from the in-house staff, she

8
added. She informed the audience that although ICMR has compiled and analyzed the data, the findings had not
yet been published.

Discussions and recommendations

Dr. Sudeep Singh Gadhok, Save the Children, lauded ICMR’s efforts in carrying out the programme with scientific
rigour, and sampling 1 lakh babies across multiple centres while addressing different public health and system
challenges across the country. He re-iterated Dr. Mathur’s point that screening was a small part of the whole
cascade. He stressed on the work that the ICMR team had put on setting up a robust system despite the resource
crunch and preparing additional informational material through the website and so on.

Although he voiced concerns over the bioethical standards surrounding informed consent and awareness amongst
parents, he commended the team’s efforts on maintaining high quality and ethical standards. He recommended
that efforts now be put in to publishing the findings of the study and encouraged the team to plan a follow-up
programme to the study.

Dr. Gurjit Kaur, Consultant, Government Medical College and Hospital 32, Chandigarh

India Experience: Chandigarh programme

Dr. Gurjit Kaur shared her experience of running

NBS in the Union Territory of Chandigarh and the
challenges faced in taking the programme off the
ground. The genetic centre at Government Medical
College and Hospital 32 (GMCH 32) was established
with the following objectives:

To estimate accurately the incidence of

commonly existing genetic disorders in
Chandigarh
To impart awareness for control of these
diseases by genetic counseling to affected
families
To prevent genetic disorders by early diagnosis to minimize the social burden

Dr. Kaur gave the audience a brief background on how NBS came to be implemented in Chandigarh. Pre-natal and
newborn screening services were opened to the public in 2007. Both these programmes still run at GMCH-32 and
NBS have been running as a public health programme with CH, CAH and G6PD deficiency being screened amongst
patients, free of cost,.

Dr. Kaur stressed that NBS involved more than testing and needed to be treated as a coordinated and
comprehensive programme consisting of education, screening, follow-up, diagnosis, treatment, management and
programme evaluation. She took the delegates through the initial process followed at GMCH-32 where neonates
were sampledwithin48 hours of their birth, once a day. The tests were undertaken once a week and the reporting
was also carried out once a week. However, some babies who were screened were not marked separately and
therefore were missed out on. Additionally, neonates with borderline values for TSH were not repeated and CAH
cut off values not adjusted with respect to gestational age/days of birth/birth weight. These challenges were

9
compounded by a high discharge rate, lack of awareness amongst parents who viewed the disorders through the
lens of a cultural taboo; and wrong or incomplete contact details being shared by parents.

As the programme continued to run its course, the following modifications were made to improve the efficacy of
Chandigarh’s NBS programme:

Sampling time was changed to 18-24 hours before discharge to ensure no newborns left the hospital
without being tested and samples were tested twice a day to reduce loss of patients due to early
discharge policies
Wide-ranging awareness programmes that included, NBS brochures, articles in newspapers, awareness
through the radio and CMEs were run in the UT
A strong emphasis on pre-test counselling and increased emphasis on the significance of repeat testing in
case of positive results
Modification of information forms to ensure that parents could be reached through an alternative
number
No patient was discharged without NBS sticker on file
Telephonic reporting to the paediatrician was carried out as soon as results were obtained
Cut-off values modified according to gestational age/days of birth/birth weight
o G6PD testing was undertaken every day and high risks (<2.2Units/gm Hb) were reported
telephonically to the neonatologist
o TSH, 17-OHP testing on alternate days or same day
o All neonates with borderline TSH and 17-OHP values called for repeat testing
Collection of samples from home in case of parents who did not responded to telephonic intimation
The NBS lab was registered with the Centre for Disease Control, Atlanta for quality assurance

Dr. Kaur also discussed the current protocol followed at GMCH-32,which involves counseling and filling of consent
forms within 24 hours of birth; sample collection after 24 hours of birth; stamping of files; drying of samples at
room temperature (horizontally for 3 hrs.); and packing and transportation of samples on same day to the
Newborn Screening Laboratory at GMCH-32. If the samples were not of the required quality, repeat sampling was
conducted. If a neonate was found to be high risk, the report was sent to the doctor in-charge of the concerned
hospital via SMS. She added that all sample records were kept manually at present.

Dr. Kaur also noted that the programme recently witnessed a milestone when the Health Secretary, Medical
Education and Research, and Advisor to Administration granted permission to expand the services of NBS to all
other hospitals of Chandigarh.

Since 16 April 2015, NBS has expanded to other hospitals including:

Government Medical College and Hospital, Sector 32

Government Multi-Specialty Hospital, Sector 16
Civil Hospital, Sector 22
Civil Hospital, Manimajra

However, in addition to challenges of awareness, consent and follow-ups, Dr. Kaur said that the issue of lengthy
purchase procedures still remained within the government. Since screening has to be done every day including
holidays, there is a need for sufficient manpower, otherwise, this could lead to the calculation of inaccurate
prevalence rates.

10
The success of the programme in Chandigarh prompted the Haryana Government to initiate NBS Civil Hospital,
Panchkula, Haryana. The programme collaboratively began in November 2014 in Civil Hospital, Panchkula. The
programme has been temporarily put on hold due to administrative issues such as non-availability of manpower,
budget sanctions and delayed audits etc. The Haryana Government is in the process of reviving the NBS
programme shortly.

Discussions and recommendations

Dr. Kaur noted the importance of raising awareness on the need for a universal NBS programme in India. She
suggested that CH screening must be made mandatory, so that state wise problems of NBS programme could be
identified. She added that SOP’s should be developed for India and that every state should strengthen at least 1
testing centre. In order to build capacity, new laboratories could be developed in association with already existing
centres. She said that sick babies should be screened for a complete panel of metabolic disorders. She
recommended that NBS software may be developed or tied-up with already existing companies worldwide to
better manage the NBS programme.

Dr. Seema Kapoor, Professor, Maulana Azad Medical College

Experience: SERB NBS Initiative (MAMC + USDC) New Delhi

Dr. Seema Kapoor through her SERB NBS initiative looked at trying to generate the first of its kind epidemiological
data in the country for IEMs detectable by mass spectrometry, which could provide a thrust in the area of inborn
metabolic error research. The long term goal of the initiative is to establish and integrate a sustainable newborn
screening system within the existing public healthcare delivery system. This could serve as a model for NBS which
could be expanded in both urban and rural settings at state/national levels. The project includes a mix of both
public and private hospitals as it exists in Delhi state.

She informed the group that the project was done as part of a private public partnership with staff being a mix of
senior nurses and fresh recruits. To generate awareness, special patient information sheets and books were
written and published. The project created a unique ID, which was specific to the institution the child was born in
and included time of birth. The code followed the pattern as follows: The first letter was the institution,
subsequently the date of birth, the sex and the time of birth after 12 AM. This was in order to get the correct
denominator while also providing anonymization.

She noted that as of 31 August 2015, 86% of births at hospitals participating in the programme had been covered
with 78974 samples being collected. Results were given roughly 24-48 hours from collection with only in 1 in every
1000 that couldn’t be tracked. She stated that the need for consent would be eliminated if the project moved to a

11
programme mode. This would lead to the creation of epidemiological data for IEMS and select gene disorders and
would be a first in India. She added that the cost benefit analysis in the long term would show that the benefits far
outweigh the risk and costs.

Discussions and recommendations

She recommended that for the programme to gain wider acceptance there was a need for each of the states
across the country to be committed and create awareness programmes which use various mediums of the media.
She also added that there is a need for a chain to be created for the efficient transport of samples. She added that
a tie up with RBSK and JSY under the NHRM would be the best mode for the objective of nationwide screening
efforts would be achieved.

Dr. Kapoor also added that there was an acute shortage of dedicated manpower in private hospitals, as nurses
already had a heavy burden of work. As a result, undertaking pre-test counseling proved to be a difficult exercise.
She highlighted that while converting NBS into a programme, this issue should be taken into account. During her
own project, Dr. Kapoor also noted that in a postpartum state the request for consent was traumatic, and the
involvement of OBGyns was not always effective.

Dr. Harsh Shah, Consultant, Health and Family Welfare Department, Government of Gujarat
Implementing a NBS Programme: The Gujarat Experience

Dr. Shah joined the round table via audio conference as he missed his flight where he recounted his experience of
implementing NBS in Gujarat. The newborn screening initiative was started as a pilot project in 2011-12 amongst 7
medical colleges and subsequently scaled up to 12 medical colleges and district hospitals. It was conceived and
implemented as a facility based programme targeted for the screening of high risk neonates. The initial phase was
supported with funding under NHM. Initially, an orientation was carried out for the heads of departments of
gynecology and paediatrics and a panel of paediatricians and obstetricians were constituted to decide criterion for
identifying a high risk neonate. It was decided to categorize all sick newborns who had a family history to be
considered as ‘high risk’.

All the logistics requirements and the investigation samples were initially taken care of by an outsourced agency –
Dr.Lal’s Pathlabs, post which a system for sample collection and reporting to facilities was eventually established.
Reports were submitted to the parent, health facilities and the Department of Health and Family Welfare for
facility based follow up on supportive and clinical treatment.

A periodic quarterly review was carried out for each facility in coordination. The screening panel included CH,
G6PD, IRT, Amino acids and tests for Galactosemia. A total of 18573 selected newborns had been screened for
congenital hypothyroidism with 143 (0.8%) testing positive. The expanded panel (except CH) had been done in
3456 selected newborns with a positive yield of 16.3 % (total 562). In year the 2014-15, the budget was not
ensured under NHM as it was directed that RBSK would cover such programmes subsequently.

Dr. Shah also spoke at length about some operational challenges Gujarat encountered while implementing the NBS
programme. He reiterated that, at the facility level, there was a need to build capacity among the OBGyns and
paediatricians and ensure parents’ compliance for regular treatment and facility follow up. At the community level,
there were similar challenges faced in tracking patients by the front line workers and there was a felt need to
continuously train frontline workers for carrying out home follow ups effectively.

12
Additionally Dr. Shah threw some light on the sickle cell anemia programme, which was another flagship
programme of the Gujarat Government which required screening at birth. The programme started in 2006 in 5
districts of South Gujarat and was extended to 12 tribal sickle cell dominant districts with the formation of Gujarat
Sickle Cell Society under which screening was outsourced to qualified, competent and dedicated agencies. He said
that in Gujarat, approximately 8, 91,262 of the tribal population is affected with sickle cell traits, and 66,845 with
sickle cell disease as on date.

Discussions and recommendations

As next steps Dr. Shah recommended that it was crucial for public health programmes to focus on the life cycle
approach and continuum of care especially under RMNCH+A Strategy. He stressed on the fact that there was a
need to have a robust mechanism in place to reach these special children, their parents and the whole community
at large.

He reiterated that though there were facility based programmes and schemes like JSSK, NBSU, NBCC etc. within
the Government of India, the linkages which need to be there for effective community care, was lacking.
Specifically on NBS, he said that, for it to be successful as a programme and not a standalone test, there need to be
robust systems established all along the value chain. He advised creating an implementation model for the
programme through linking with JSSK for the diagnosis part and RBSK - more specifically DEIC’s - for treatment and
management. He urged the group to advocate for expansion of RBSK to include more IEMs in them along with
expansion of essential diagnostics to include screening techniques under JSSK. He also suggested exploring
Rashtriya Kishori Swasthya Karyakram(RKSK) for specific diseases like thalassemia, SCC etc. and also developing a
health insurance package for the special children and not only newborns.

Dr. Amar Fettle, State Nodal Officer for Health, Government of Kerala

India Experience: NBS Research Programme in Kerala

Dr. Fettle briefed the audience on Kerala’s attempts at

implementing NBS in the state. He apprised the audience of
Kerala’s public health system, and shared that, as a part of this all
diagnostic tests are conducted in state public health labs. He
went on to add that, there are four regional health labs and one
central lab at Trivandrum, the capital of Kerala, which together
form the bulk of the testing system. All public hospitals send their
samples to these labs.

With this background, Kerala has implemented an NBS

programme in the state since 2012 which was inaugurated by the
Chief Minister himself, after a proposal was submitted in 2011.
The programme was implemented to get an early indication of preventive disorders such as CD and to provide
timely intervention.

Dr. Fettle said that Kerala was currently testing for four disorders, namely CH, CAH, PKU and G6PD, and gave
emphasis to CH because of the visibility of interventions and the amount of change that was possible. Hospitals
which conducted an average of 800 deliveries each month were chosen for this. Instructions on how to pack, store

13
and courier were provided. Reports were sent as PDF files through email for positive cases. However, he noted
that some problems still remain and cited the lack of maintenance of a cold chain, as an example of these issues.

In terms of logistics, he mentioned that sample collections were undertaken by nurses. He discussed the
management of resources including staff. Human resources was provided through a selection through NHM, with
hands on training being provided by health experts. However, he said that the major constraint remained human
resources and funding for the programme, which currently is just enough for 45 hospitals. He added that funds
would come in from RBSK but that there was some uncertainty around it.

Discussions and recommendations

Dr. Fettle suggested that the NBS programme should be scaled up to include all government owned and run
maternity hospitals in Kerala. He advised the exclusion of PKU and G6PD from their panel, since the consequences
associated with G6PD were less serious when compared to CH. This would further make it financially viable when
all government hospitals would be included under the programme. He further added that government could give
directions to private hospitals in the state regarding CH testing at their own facility, owing to a high prevalence in
the state. He said that the inclusion of screening any other inborn errors of metabolism could be considered after
discussion with the senior clinicians.

Dr. Madhuri Hegde, Executive Director, Emory Genetic Laboratory

International Experience: Learning for India

Dr. Hegde initiated the session by introducing the audience

to the NBS programme in the United States; the activity
conducted by Emory University’s Genetic Laboratory; and
the work and shortcomings in the USA around this program.
She discussed the scalability of the new born screening
programme in the United States and the need for
automation as India is a huge country and the number of
samples would be phenomenal. She stated that a
comparative study should be done to ascertain the most
cost effective method to implement an NBS programme in
India.

Dr. Hegde continued to stress on the need for a continuous

evaluation of the programme data analysis and the need for sharing data with others conducting such projects in
India. Her view was that by sharing data, processes would improve and there would be a better way of screening
the data and implementing a national programme. This would also help in comparing cut off values to prevent
false negatives showing up in the data. She believed it was absolutely essential to mandate data sharing in India.

Dr. Hegde believed that an infrastructure needs to be put in place that would help parents understand their
genetic diagnosis which would help them understand the risks of having a baby. It would also be useful she felt if
there was a better system in place to help families deal with children with inborn errors such as better availability
of special feeds. She also discussed the quality assurance programme put in place by the Centre for Disease
Control and the need for similar programmes and accreditation process by labs in India and how accreditation
would help to have a good programme going.

14
Discussions and recommendations

Dr. Hedge’s session concluded with three key recommendations to initiate a nationwide newborn screening
programme in India:

Building a larger panel of experts, which would support the government in deliberating on the issue of a
new born screening programme in India
The need for those currently running new born screening projects to share data and build a shared data
base that could help in preventing any errors and also predict future in born error possibilities for
prospective parents
The need to have a central laboratory, which collects and analyses all data as this would provide clear
review comparison of the data being created

Dr. Ashok Garg, Accreditation Officer, NABL

Accreditation: An important parameter for NBS

Dr. Ashok Garg who represented the National Accreditation Board for Testing and Calibration Laboratories (NABL)
discussed the broad contours of the accreditation system in India. He reiterated the points made by Dr. Madhuri
Hegde about the importance of accreditation in public health such as the newborn screening programme.

Dr. Garg then described the process of accreditation in India for registering ones lab and the various criteria that
are applicable for the same. He also mentioned the technical requirements that must be fulfilled for accreditation
by NABL. Dr. Garg informed the present guests that, as of August 2015, there were 643 NABL accredited medical
labs in India.

Discussions and recommendations

Dr. Garg discussed the differences between accreditation by NABL and the processes put in place by NABL. He also
mentioned that the NABL would look forward to working with the NNF in supporting the NBS programme in
mutually beneficial ways.

Dr. B.K. Thelma, Professor, Department of Genetics, University of Delhi, Delhi

Collaboration to support research in metabolic disorders: Interlinkage of Dept. of Biotechnology and

Ministry of Health
Dr. B.K. Thelma began talking about her experiences with
an anecdote about how most of the research that has
begun due to questions by medical doctors have led to
findings that help benefit people on a daily basis. She
believed that a great way to give back to society was by
ensuring the benefits of science reach the common man.

She stated that an important aspect of NBSin India was

that accessibility to treatment for babies afflicted with

15
IEMs was not as much a challenge as was diagnosing the disorders if core panel were to be chosen correctly.
Another important aspect of the programme was genetic parental counselling wherein the modalities of the
disorders and correlation with reproductive age was stressed upon.

If we use today’s technology to actually identify the gene that is responsible for the error and do a test for the
mutation for the next pregnancy, Dr. Thelma believed we’d be doing a great service to the public. She believed the
biggest focus of the newborn screening programme should be prevention.

Dr. Thelma also shared that a ballpark cost of conducting all 51 tests was approx. Rs. 941 per baby. She arrived at
this figure by dividing her total budget by the number of babies that have been tested. She believed at this cost, it
was very easy to create a public health initiative to test all new born babies under the NHM and JSY.

Discussions and recommendations

Dr. Thelma believed NBS should be run in each state, and the data collated nationally, to understand the disorders
present in different states and look at thus create a map for such disorders. This would provide public health
authorities with a better understanding of the incidence rates of such disorders.

Dr. Thelma opined that it would be efficient to initiate a public-private-partnership in this space in India as such an
approach would help bring in best-in-class expertise and technology into the space and allow the necessary scale
up needed to span the large number of births in India. While she agreed there would be a profit interest by private
companies, this would well be offset by their breadth of experience in the sector, which would ultimately benefit
the common man.

Dr. Thelma also stated that it was important to screen for not just CH and CAH but also for all 51 disorders. She
went on to add that while 5 of these disorders are treatable, the others would provide valuable epidemiological
data for India, reflecting region-specific incidence rate of disorders, which are currently missing.

Dr. Ashok Gupta, Superintendent, JK Lone Hospital, Jaipur

Experience: Rare Disease Initiative at SMS Medical College

Dr. Ashok Gupta provided a brief introduction to rare diseases and their
symptoms and mentioned how over 70% of the rare diseases are genetic
in origin, while some are a combination of genetic and environmental
factors. In 3 months, the Centre for Rare Diseases, completed work on 14
rare diseases cases including Progeria, Osteogenesis Imperfecta, Chronic
Granulomatous Disease, Calcific Osteochondritis etc.

Dr. Gupta mentioned the current mission of newborn screening in India is

to identify genetic errors in children and help in improving infant
outcomes through effective interventions, while the future of the
programme would be in early identification and research besides ‘other
benefits’. These other benefits would include avoiding situations which would involve repeated tests to arrive at
correct diagnosis at the cost of time and resources.

Dr. Gupta also stated that few medical personnel knew about the availability of special diets for metabolic
disorders.

Some figures presented by Dr. Gupta

16
 Rajasthan has around 110000 birth per year
4800 abortion/ 1700 Still Birth/ 8500 born Preterm
2100 babies die within 7 day of life
2700 babies die by 4 week of age,of which 380 because die due to sepsis and another 600 without any
obvious causes

Discussions and recommendations

Dr. Gupta recommended that a NBS programme be in put in place at the earliest in order to help in the research of
rare diseases in India. He felt such a programme would help prepare parents for these conditions and result in the
saving of valuable lives by providing timely access to promising therapies.

Dr. Arun Singh, National Advisor, RBSK, Ministry of Health & Family Welfare

Newborn Screening in India: Current perspectives and way forward

Dr. Arun Singh, National Advisor for RBSK had a prior engagement on the day of the consultative meet but had
conveyed in writing his thoughts around Newborn Screening to NNF and Dr. Ajay Gambhir. This was briefly
presented to the audience and salient points of the same were as follows.

He mentioned about the Kerala NBS program which is a state wide Newborn screening for CH, CAH, G6PD and PKU
through neonatal blood spot specimens using ELISA and colorimetric reader and washer. He also spoke about the
Uttarakhand program which has been running a similar program and also included haemoglobinopathies apart
from G6PD screening. He lauded the work of NIMHANS which he said has been doing excellent work on newborn
screening using TDMS and other tests even under ICMR. He reiterated that, about 5-15 % of all sick newborn are
expected to have some Inborn Error of Metabolisms (IEM) which may be transient or permanent. Examples of
these IEMs would include galactosemia, M.S.U.D., propionic acidemia, multiple carboxylase deficiency, urea cycle
defects etc.

He stressed the key components which are essential to any NBS programme:

a) Newborn screening for visible birth defects from head to toe which should be done at all delivery points and
required no instruments

b) Screening requiring some instruments like congenital deafness, congenital cataract, ROP, CCHD etc.

c) Screening requiring blood samples for testing like: sickle cell disease, G6PD, Inborn Error of Metabolisms like
Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, Maple Syrup Urine
Disease etc.

d) High risk screening where blood samples from select cases should be send to centers which have the capability
and are already having TDMS like NIMHANS, MAMC etc. especially in the Government sector.

Lastly he mentioned that screening without a system for follow up or making available specific medicines or food
products like in PKU would make the screening program useless. For this he said that we would require a center
which can evaluate and monitor the physical development, cognitive development, vision, and hearing along with

17
specific metabolites in a child. Lastly, in his note he specified that the prerequisites for screening should be Simple,
Specific, Sensitive, Cost effective and Easy for collection and transport.

Parent advocacy groups

Vikas Bhatia, Head, Metabolic Errors and Rare Diseases Organisation of India (MERD India)

Support group for parents

Mr. Vikas Bhatia underscored the importance of newborn

screening in his comments and talked about the lack of
awareness about IEMs amongst the medical fraternity and
parents, alike. He narrated instances where he often found
doctors ignorant about inborn errors and mis-diagnosing
afflicted infants. He ad ded that, it is not only important to
screen and diagnose babies, it is equally important to
ensure that the appropriate foods and medicines are
available for the treatment and management of affected
babies. He also informed the audience that September is
celebrated as the month of newborn screening, while
November 21 is the IEM day.

Discussions and recommendations:

Mr. Bhatia stressed on the need for genetic counsellors in India, as the few in existence were not accessible to the
large number of people who needed them. This would lead to better knowledge and awareness of genetic
disorders and the increased need for a nationwide newborn screening programme in India.He also spoke about the
importance of having special feeds made in India as the cost of imported feeds was extremely high.

At the end Dr. Alok Bhandari, Finance Secretary, NNF thanked the all to give their valuable time for attending this
meeting.

18
Key recommendations

The Newborn Screening Consultative and Policy Meet held on 22 September 2015 in New Delhi was successful in
bringing key stakeholders together with the vision of initiating a nationwide NBS programme. Through the
engaging discussions and informative presentations, there was unanimity in the need for such a programme and a
broad consensus on the way ahead for NBS in India. Some of the key recommendations which the group made are
provided hereunder:

1. Initiating the formation of a 2 Working Groups with the following focus areas:
o Working group to identify the next generation of NBS Champions in India by December 2015
o Working group to chalk out NBS operational guidelines and link NBS Programme with RBSK by
December 2015
2. Ensuring that NBS operational guidelines are indicative and serve as means to implement NBS as per the
capacity of individual states
3. Generating awareness among the community of geneticists, neonatologists and paediatricians on the
need for NBS in India by organizing regular discussion sessions and similar consultative meets
4. Advocating the importance of implementing NBS as a universal public health programme among Federal
and State level authorities in India.

Way forward

As an outcome of the Newborn Screening Consultative and Policy Meet, members were requested to nominate
themselves into the working groups indicated above by the NNF President, Dr. Gambhir. On dissemination of the
report of the proceedings that occurred during the meet, the working groups would be formalized by NNF and
subsequently develop governance mechanisms to share updates and discuss next steps in their specific focus
areas. NNF would serve as one of the advocating body with the ministry, government officials and existing regional
committees on the subject and prepare a whitepaper on newborn screening which would be submitted to the
government to help frame a robust newborn screening policy. Dr. Gambhir and Dr. Kapoor would meet with Dr.
Rakehs Kumar to discuss the issue and implement the same.

19
Attendees
Chief Guest
Dr. Gagan Gupta, Health Specialist, UNICEF

Guests of Honour
Dr. Renu Srivastava, Department of Health and Family Welfare
Dr. Siddharth Ramji, Maulana Azad Medical College
Dr. Madhuri Hegde, Executive Director, Emory Genetic Laboratory

Name
Dr. Ashok Garg
Dr. Amrita Misra
Dr. Deepti Agrawal
Dr. Bakul Parekh
Mr. Vikas Bhatia
Sr. Anita
Dr. Sujata Misra
Dr. Devendra Khandait
Dr. Ravender Kaur
Dr. Amar Fettle
Dr. Adtiya Kumar Mohapatra
Dr. Ashok Gupta
Dr. Manish Sharma
Dr. Sachin Gupta
Dr. Madhuri Hegde
Dr. Gurjit Kaur
Dr. Seema Kapoor
Dr. Sanjay Kapur
Prof. Thelma BK
Dr. Siddharth Ramji
Dr. Sudeep Singh Gadok
Dr. Roli Mathur
Dr. Ajay Gambhir
Dr. Alok Bhandari
Dr. Renu Srivastava
Dr. Gagan Gupta
Dr. Kapil Yadav
Organisation
National Accreditation Board for Testing and Calibration Laboratories
United Nations Development Programme - Norway India Partnership Initiative
United Nations Development Programme - New Born Project
Indian Association of Paediatricians
Metabolic Errors and Rare Diseases Organisation of India
Saroj Super Specialty Hospital
The Federation of Obstetric and Gynaecological Societies of India
Bill and Melinda Gates Foundation
Save the Children
National Health Mission and Directorate of Health Services - Kerala
National Health Mission - Odisha
Sawai Madhavpur Medical College
JK Lone Hospital
USAID
Emory University
Government Medical College and Hospital - Chandigarh Sec 32
Maulana Azad Medical College
John Snow India
University of Delhi, South Campus
Maulana Azad Medical College
Save the Children
Indian Council of Medical Research
National Neonatology Forum
National Neonatology Forum
Ministry of Health and Family Welfare
The United Nations Childrens Fund
All India Institute of Medical Sciences

20
Meeting agenda

Programme

11.00 - 11.15 Welcome and introduction by Dr. Ajay Gambhir, President, NNF

Opening panel

11.15 - 11.30 Dr. Siddharth Ramji, ICMR Chair: Dr. Ajay Gambhir
Dr. Renu Srivastava, MoHFW
Dr. Gagan Gupta, UNICEF

Theme (Session 1): Need for shaping the NBS policy environment
Moderator: Dr. Siddharth Ramji

Dr. Roli Mathur

11.30 - 11.45 IEM Incidence-Indian data: ICMR multicentric Study ICMR, New Delhi

Dr. Gurjit Kaur

11.45 - 12.00 India Experience: The Chandigarh NBS programme
GMCH-32, Chandigarh

India Experience: SERB NBS Initiative (MAMC + USDC), New Dr. Seema Kapoor
12.00 - 12:15
Delhi ICMR, New Delhi

Dr. Harsh Shah

12:15 - 12:30 Implementing an NBS Programme: The Gujarat Experience
Dept. of Health, Gujarat

Dr. Amar S. Fettle

12:30 – 13:00 India Experience: NBS research programme in Kerala NHM and Directorate of Health
Services, Kerala
13.00 - 14.00: Lunch
Theme (Session 2): Qualify Control of labs and NBS programme
Moderator: Dr. Sudeep Singh Gadhok

Dr. Madhuri Hegde

14:00 - 14:30 International Experience: Learning for India
Emory University, Atlanta, USA

Dr. Ashok Garg

14.30 - 14:45 Accreditation: An important parameter for NBS
NABL, New Delhi

Sister Anita
14:45 - 15.00 Problem in Implementation PPP (Public Private Partnership) Saroj Super Specialty Hospital,
New Delhi

Comments: Constitution of Working Group for drafting NBS Operational guidelines and linking NBS
15:00 - 15:15
Programme with RBSK

21
 Theme (Session 3): Bridging the gap between need and availability of medical fraternity working in the field of metabolic
disorders
Moderator: Dr. Madhuri Hegde

Dr. Thelma
DBT: Collaboration to support research in metabolic disorders:
15:15 - 15:30 Dept. of Biotechnology, University
interlinkage of DBT and MoHFW
of Delhi, South Campus

Dr. Ashok Gupta

India Experience: Rare Disease Initiative at SMS Medical
15:45 - 16.00 Sr. Professor and Superintendent,
College
SMS Medical College, Jaipur

16.00 - 16:15: Comments and feedback

Mr. Vikas Bhatia

16.15 - 16.30 Support group for parents
Head, MERD, Jaipur

Comments: Constitution of working group for identifying next generation of NBS champions (Dr. Ajay
16:30 - 16:45
Gambhir)

Dr. Ajay Gambhir

16:45 - 17.00 Concluding remarks and vote of thanks
President, NNF

22

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