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Brief communication  633

Scope of genetic counseling in reducing the magnitude

of hereditary disorders: developing nations’ perspective
Shrivastava Saurabh RamBihariLal, Shrivastava Prateek Saurabh,
Ramasamy Jegadeesh

Department of Community Medicine, Shri
Sathya Sai Medical College & Research
Institute, Chennai, Tamil Nadu, India
Correspondence to Saurabh R. Shrivastava,
MD, Department of Community Medicine, Shri
Sathya Sai Medical College and Research
Institute, 3rd Floor, Ammapettai Village,
Thiruporur, Guduvancherry Main Road,
Sembakkam Post, Kancheepuram - 603 108,
Tamil Nadu, India
Tel: +91 988 422 7224;
e-mail: drshrishri2008@gmail.com
Received 13 November 2014
Accepted 22 February 2015
Menoufia Medical Journal 2017, 30:633–635
Genetic counseling is defined as a process of communication and education, which addresses
concerns relating to the development and/or transmission of a hereditary disorder. Despite the
proven utility of genetic counseling in improving the clinical outcome and quality-of-life of people,
its overall contribution in the health sector has remained far from expected. Recognizing the
scope of genetic counseling, the need of the hour is to deliver easily accessible and quality-
assured genetic counseling services to the entire population. In conclusion, global expansion
of genetic counseling services is the need of the hour, to have a significant impact on the
patient-related clinical outcomes and on the psychosocial concerns of the family members.
Keywords:
communication skills, counseling, developing nations, genetic, health
Menoufia Med J 30:633–635
© 2017 Faculty of Medicine, Menoufia University
1110-2098

modalities with no attempt to lead the individual in any

Introduction
Genetic counseling is defined as a process of
communication and education, which addresses
concerns relating to the development and/or
transmission of a hereditary disorder [1]. It caters
to the concerns of individuals/families who have
a family history of serious diseases (whether they
are susceptible to develop or transmit the disease)
by assisting the family members in adapting to the
accompanied challenges [2]. Genetic counseling
has gained wide attention and is of remarkable
utility in the diagnosis and management of multiple
conditions [3]. Furthermore, it plays a vital role
in ensuring that families of affected individuals
understand the role that genetics play in the disease
or disability [4].
Genetic counseling: type and scope
Genetic counseling may be prospective identification
of heterozygous individuals for any particular defect by
means of screening procedures and explaining to them
the risk of their having affected children if they marry
another heterozygote for the same gene, or retrospective
(cases in which the genetic condition has already
occurred) [1,2]. During any genetic counseling session,
the counselor’s task is as follows: to reconfirm the existing/
provided diagnosis by eliciting an accurate family
history, detailed clinical examination, and appropriate
investigations such as karyotyping; to explain the
implication of condition in terms of its prognosis, mode
of inheritance of the disorder, and its risk of occurrence
and/or transmission; to inform about all treatment
1110-2098 © 2017 Faculty of Medicine, Menoufia University
particular direction; to conduct psychosocial assessment;
and to provide adequate support to the client/family
members [4–6]. In other words, in a genetic counseling
model, an assessment of three broad parameters –
namely, background (family history, potential etiological
factors, and population at risk), numeric probability, and
perceived severity (nature/magnitude of outcome) – is
carried out, to eventually estimate the perceived risk of
the future offsprings [7].
As it is a highly sensitive issue, the counselor should
be sensitive, good listener, and should provide privacy
and applicable information to the patients [8]. In
fact, one of the crucial roles of the counselor is to
extend psychosocial support (prospective genetic
counseling – providing the couple with mental
support; guiding them with other means/ways of
having a healthy child; and making them aware of
the different challenges that await them if they do
conceive a child irrespective of their heterozygous
traits for a clinical condition – and retrospective
genetic counseling – explaining to the couple that this
is not the end of life, as there are many children in the
world who suffer from a similar disorder and who are
leading a near-to-normal life with the help of their
parents’ tender care/love/support; extending moral
support and helping the couple to realize that none
of them per se are responsible for the genetic anomaly
in their child; counseling them to overcome the social
stigma; linking them with social/governmental/
nongovernmental agencies to familiarize them with
the kind of care required for such a child and develop
a sort of confidence/trust that they are not alone in
this world facing this challenge) [2,4,7].
DOI: 10.4103/1110-2098.215468
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634  Menoufia Medical Journal, Volume 30 | Number 2 | April‑June 2017
Approaches to expand the genetic
counseling services
Although the nature and type of genetic counseling
services differ in variable settings based on the type
of illness (namely, chromosomal anomaly/cancer/etc.)
for which it is being used, the expansion of the same
worldwide has not been uniform [3,6]. Owing to the
growing demand for genetic counseling worldwide, a
number of approaches such as videoconference-based
genetic counseling [9],training nurses as counselors [10],
interactive computer educational programs [11],
telephonic counseling [12], group counseling [13], and
dissemination of information booklets to help patients
make informed decisions about treatments [14], have
been tried upon to expand the reach of the services.
In addition, it has been proposed to progress from
genetic counseling to genomic counseling to augment
the benefit of the same [15]. In fact, cognitive and
behavioral measures have been used in heterogeneous
settings to differentiate the status of the counselees
and/or their family between that before and that after
genetic counseling [16].
Barriers limiting the overall utility
Despite the proven utility of genetic counseling
in improving the genetic endowment of the
human population and quality-of-life of people in
multiple countries (Australia, New Zealand, Brazil,
etc.) [2,3], its overall contribution in the health sector
has remained far from expected, as even now many
children are born with such genetic anomalies that
are definitely preventable [3,6,8]. In fact, expansion
of genetic counseling services is the need of the hour
to have a significant impact on the patient-related
clinical outcomes and on the psychosocial concerns of
the family members, especially in developing countries
[17–19]. There are a wide range of different factors:
(1) Limited existence in some of the countries
[16–20];
(2) Nonrecognition of the genetic counseling as an
independent field, as genetic conditions are not
considered as a public health priority [17,18,20];
(3) Shortage of qualified genetic counselors
[6,18,21];
(4) Limited availability of clinical and laboratory
resources desired for optimal genetics services
[18,20];
(5) Poor knowledge/awareness among healthcare
workers about the need for genetic counseling
[18,22];
(6) Low or minimal awareness among general
public [23];
(7) Limited adoption by people [24];
(8) Substandard communication skills during the
sessions [25];
(9) Ethical and professional concerns [7,26]; and
(10) Less rate of referral of carrier parents to avail
services of genetic counseling [27,28]. These
factors have been attributed to the limited
availability or utilization of the services, even
where it is available.
Proposed measures
Recognizing the scope of genetic counseling, the need
of the hour is to deliver easily accessible and quality-
assured counseling services to the entire population
by the use of cognitive and behavioral measures in
heterogeneous settings to differentiate the status of the
counselees and/or their family between that before and
that after the session [28,29]. Multiple interventions
have been recommended to supplement the existing
medical services:
(1) prioritizing genetic disorders as a public health
concern by ensuring political commitment
[16,20];
(2) implementing measures for infrastructure
development [20];
(3) empowering families with genetic knowledge
[4,23];
(4) creating awareness among the public and health
professionals [23,29];
(5) training primary healthcare professionals to
become genetic counselors [9,30];
(6) organizing training sessions to improve
communication skills as a part of capacity
building [25,31];
(7) facilitating referral of high-risk individuals to
genetic counseling sessions [27,28];
(8) involving family members in the session [32];
and
(9) utilizing a standardized questionnaire in
facilitating personalized communication about
the problems encountered in genetic counseling
sessions [33].
These strategies, if implemented in a systematic and
well-planned way, will allow the people to adopt these
services more often than not, and thus help in the
detection of more of these genetic anomalies at an early
stage. In short, it will reverse the current pattern – that
is, more people will be opting for prospective genetic
counseling (which is the prevention strategy in true
sense), rather than going for retrospective genetic
counseling.
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Conclusion
There is ample scope for genetic counseling in
developing nations to ensure significant reduction in
the magnitude of hereditary disorders. However, the
policy makers have to identify the gaps in the local
settings and plan appropriate corrective strategies to
address the same.
Acknowledgements
Conflicts of interest
There are no conflicts of interest.
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