Redefining rare disease care in India: the expanding role of genetic counselling and technology

Rare diseases affect an estimated 350 million people worldwide, over 80% of which have a genetic basis. In India, diverse genetic backgrounds, high consanguinity and uneven access to healthcare complicate diagnosis and management. This review highlights the expanding role of genetic counselling in addressing these challenges through risk assessment, patient education and psychosocial support. It also discusses technological enablers such as artificial intelligence, telemedicine and digital counselling tools that can extend access to underserved populations and assist counsellors in variant interpretation, data management and patient communication. The manuscript focuses on strengthening India’s genetic counselling framework through culturally sensitive practices, improved training and responsible integration of emerging technologies. It underscores the importance of interdisciplinary collaboration, policy reform and public awareness to achieve equitable and sustainable rare disease care in low-resource settings.