MD, FNASc, FASc, FAMS , FNA
NASI-ICMR Chair on Public Health Research at Rajasthan University of Health Sciences (RUHS), Jaipur & President, JIPMER, Puducherry; Former Secretary, Department of Health Research, Govt of India and Director-General, Indian Council of Medical Research, Sector 18, Kumbha Marg , Pratap Nagar, Jaipur-302033 (Rajasthan)
Symposium: “Rare Genetic Disorders” organized by Sudha Bhattacharya, JNU, New Delhi
Rare Genetic Diseases in India : Unmet Needs, Challenges and Opportunities
During the recent years, the debate on rare diseases has gained momentum in India and other parts of world. However, in a scenario of competing health priorities these disorders have not received due attention. We even do not know as, how many really affect Indian population. Efforts are being made to establish registries which will be certainly very helpful for research and interventions in future. It is accepted that a national policy for rare diseases is required because such diseases have different needs compared with other common medical conditions. As of now most of them are incurable and can be quite debilitating. While genetic basis of some of them is partially understood, mostly the scene is hazy. Under these circumstances rational drug development is very difficult. Further investments in the development of therapeutics for these disorders are very low due to poor expected return. Also adequate numbers for clinical trials are not easily available. Because of such factors rare diseases have been accorded special policy preference in many countries through the enactment of laws like the Orphan Drug Act of USA. There is a need for a comprehensive policy that incorporates special provisions for supporting diagnosis and development/ availability of therapeutics at a rapid scale using expertise from both public and private sector. Scientific and social activists, various institutions, science academies, science agencies, CDSO and Ministry of Health & family Welfare, other Ministries, State Governments etc. have taken various initiatives on rare diseases. Court interventions have helped in several instances. Different stakeholders including patients, clinicians, researchers, social scientists, government officials and political leaders are also contributing to the process. Development of cost-effective therapies is considered a top priority. Repurposed drugs as well as alternative systems of Medicine/ Health care deserve priority for finding out possible treatment/ prevention options. In the scientific and social debates various pathways have been suggested for research cum interventions both for rare diseases for which currently there is no cure as well as also for those conditions for which some products are available but currently unaffordable. As both the situations have ethical issues, these are being addressed at society as well as at governmental level. In-depth understanding of globally tried best practices and their adaptation to Indian socio-economic milleu will provide many a options to consider to adopt, adapt and also innovate according to our own requirements. This presentation attempts to address the gaps, unmet needs, progress, barriers and opportunities to accelerate the research cum intervention work on these conditions in India.