CL Psychiatry

Genetic counseling: Relevance in Psychiatry

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Volume 5 Issue 10 October 2015

Consultation Liaison Psychiatry Focus: ‘Genetics’

Genetic counseling was first defined by Sheldon Reed in 1947 and is as old as genetics itself. Once limited to rare mendelian disorders, genetic counseling is playing an ever increasing role in predicting, diagnosing, and managing various human disorders related to genes or chromosomes including psychiatric conditions. It has been observed that optimal potential of genetic counseling services may not be realized because of lack of availability and lack of knowledge regarding its special role in patient and family care.

Many attempts have been made to define genetic counseling by experts, and it is largely considered to be an educational process. It is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; education about inheritance, testing, management, prevention, resources and research; and counseling to promote informed choices and adaptation to the risk or condition.

In the majority of families presenting for psychiatric genetic counseling, there is no clear pattern of familial transmission. Therefore, mental health professionals need to rely on genetic epidemiological literature to provide empirical risks for specific psychiatric conditions. However, with unprecedented advance in molecular medicine, many genetic defects have been identified using exome sequencing, microarray analysis and next generation sequencing. Whether the abnormality detected through this testing is of significance or not requires a lot of bio-informatics tools for accurate interpretation of the findings. Algorithmic approach for chromosomal micro array (CMA) is now being considered as first line approach for mental disorders and dysmorphism.

Further, genetic counseling is an integral part of genetic testing. No genetic tests should be performed without counseling the patient. It may be highly challenging to offer genetic counseling to patients with mental illnesses. There is much bigger role of care giver to understand the role of genetics in their family member. In fact, psychological make-up of care giver will determine the optimal impact of genetic counseling.

ILD Workshop 2017
Dr. Kuldeep Singh, MD, DM Additional Professor,
Pediatrics, All India Institute of Medical Sciences, Jodhpur
Email: kulpra@hotmail.com; kulpra@gmail.com