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Journal of human reproductive sciences · 2025

The Role, Importance of Genetic Counsellors and the Awareness of Genetic Counselling in Indian Scenario.

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Aman Nadir

Аннотация

Genetic counselling is a critical component of genomic medicine, offering individuals and families support in understanding genetic risks, making informed decisions and adapting to potential genetic conditions. This commentary highlights the key roles of genetic counsellors in disease prevention, reproductive medicine and patient support. Pre-test counselling and informed consent ensure ethical and autonomous decision-making before genetic testing. The distinct yet complementary roles of genetic counsellors and clinical geneticists enhance comprehensive patient care. The case report illustrates the practical applications of genetic counselling involving a paediatric case of beta-thalassaemia. Genetic counselling plays a crucial role in reproductive medicine, particularly before pre-implantation genetic diagnosis, enabling couples to make informed reproductive choices. Additionally, it contributes to the prevention of genetic disorders by educating populations about consanguinity risks, carrier screening and early genetic interventions. The structured process of genetic counselling ensures patient-centred care from initial risk assessment to post-test support. Recognising genetic counselling as a distinct profession and integrating it into multidisciplinary healthcare teams will be essential in improving patient outcomes and advancing genomic medicine.