Experts advocate genetic counselling for rare disease management

Healthcare experts have proposed several strategies to tackle rare diseases in India. They recommend genetic counselling and family tree mapping to help identify and reduce instances of genetic disorders. K.P. Vinayan, a leading neurologist, pointed out that marriages within families can increase the risk of these disorders affecting children. During the recent international conference on neuromuscular disorders, experts discussed the importance of identifying affected individuals in family histories. With this information, parents could receive counselling and medical treatment to support healthier pregnancies. The conference also emphasized the need for incentives that promote the production of orphan drugs. These specialized medications are vital for treating rare diseases but can be very expensive. Experts noted that while some nations provide support for orphan drug research, many drugs in India remain costly due to long patent periods. Healthcare professionals are calling for stronger government policies and funding, especially for conditions like Spinal Muscular Atrophy (SMA). This disease is particularly severe, leading to muscle weakness and other complications. Although there have been advancements in treatment, access remains limited in India due to financial and infrastructure challenges. India's National Policy for Rare Diseases aims to provide support for patients, including financial aid for treatments. However, many still struggle to obtain timely care due to funding delays and high costs. Experts also praised Kerala's integrated approach to managing rare diseases, which involves early screening and comprehensive care. The state government’s initiative, Kerala United Against Rare Diseases, offers free treatment for over 100 children with SMA and aims to expand its support base.