|Year : 2017 | Volume
| Issue : 2 | Page : 633-635
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
|Date of Submission||13-Nov-2014|
|Date of Acceptance||22-Feb-2015|
|Date of Web Publication||25-Sep-2017|
Shrivastava Saurabh RamBihariLal
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
Source of Support: None, Conflict of Interest: None
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
|How to cite this article:|
RamBihariLal SS, Saurabh SP, Jegadeesh R. Scope of genetic counseling in reducing the magnitude of hereditary disorders: developing nations' perspective. Menoufia Med J 2017;30:633-5
|How to cite this URL:|
RamBihariLal SS, Saurabh SP, Jegadeesh R. Scope of genetic counseling in reducing the magnitude of hereditary disorders: developing nations' perspective. Menoufia Med J [serial online] 2017 [cited 2020 Jun 6];30:633-5. Available from: http://www.mmj.eg.net/text.asp?2017/30/2/633/215468
| 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 . 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 . Genetic counseling has gained wide attention and is of remarkable utility in the diagnosis and management of multiple conditions . Furthermore, it plays a vital role in ensuring that families of affected individuals understand the role that genetics play in the disease or disability .
| 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) ,. 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 modalities with no attempt to lead the individual in any 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 .
As it is a highly sensitive issue, the counselor should be sensitive, good listener, and should provide privacy and applicable information to the patients . 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) ,,.
| 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 ,. Owing to the growing demand for genetic counseling worldwide, a number of approaches such as videoconference-based genetic counseling , training nurses as counselors , interactive computer educational programs , telephonic counseling , group counseling , and dissemination of information booklets to help patients make informed decisions about treatments , 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 . 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 .
| 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.) ,, 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 ,,. 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:
- Limited existence in some of the countries [16–20];
- Nonrecognition of the genetic counseling as an independent field, as genetic conditions are not considered as a public health priority ,,;
- Shortage of qualified genetic counselors ,,;
- Limited availability of clinical and laboratory resources desired for optimal genetics services ,;
- Poor knowledge/awareness among healthcare workers about the need for genetic counseling ,;
- Low or minimal awareness among general public ;
- Limited adoption by people ;
- Substandard communication skills during the sessions ;
- Ethical and professional concerns ,; and
- Less rate of referral of carrier parents to avail services of genetic counseling ,. 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 ,. Multiple interventions have been recommended to supplement the existing medical services:
- prioritizing genetic disorders as a public health concern by ensuring political commitment ,;
- implementing measures for infrastructure development ;
- empowering families with genetic knowledge ,;
- creating awareness among the public and health professionals ,;
- training primary healthcare professionals to become genetic counselors ,;
- organizing training sessions to improve communication skills as a part of capacity building ,;
- facilitating referral of high-risk individuals to genetic counseling sessions ,;
- involving family members in the session ; and
- utilizing a standardized questionnaire in facilitating personalized communication about the problems encountered in genetic counseling sessions .
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.
| 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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