Session 2C

Symposium: “Rare Genetic Disorders” organized by Sudha Bhattacharya, JNU, New Delhi

Rare Genetic Diseases in India: an overview and experiences from one centre

There are over 6000 rare or orphan diseases. Nearly 80% of them have an underlying genetic basis. Roughly half first manifest at birth or in early childhood. Most are chronic, disabling disorders, limiting life expectancy and the possibility of a normal life. Fewer than 5% have a definitive treatment. Where treatment is available, it is usually very expensive and needed life-long. Families often feel completely bewildered when a genetic disorder is diagnosed in their family, leaving them without their usual support systems or sense of security. There is a world-wide shortage of experts to diagnose, counsel and treat rare disorders. Training of clinical geneticists, genetic counsellors and diagnostic laboratory personnel is now a priority the world over. In India, over the past decade, there has been a notable increase in public awareness, number of disease support groups, laboratories offering next generation DNA sequencing and trained specialists. Government policies, programmes and funding have improved management of some rare disorders. There are fledgling attempts in the horizon at developing low-cost indigenous therapies. There are new policy initiatives to promote partnerships between science and industry. However, universal newborn screening, state funding for diagnosis and therapy, wider availability of genetic tests and disease registries are still awaited. The draft National Rare Diseases Policy, 2020, which aims at equitable and more inclusive management of rare disorders is also waiting to be approved. I will conclude this presentation with an account of my experience over these past fifteen years as a clinical geneticist at the Centre for Human Genetics. Our initiatives include training of personnel, outreach clinics, public engagement, developing low-cost medical diets for inborn metabolic disorders, setting up a centre of excellence for rare disease therapy, developing an interactive online database for patient records and our successful experience in conducting telegenetic clinics during the Covid-19 pandemic.