A rare disease is a disease or health condition that affects very few people amongst the general population. Example of rare diseases includes Huntington's disease and Wison’s disease. Indeed, very few people have specific rare diseases but there are a total of about 8000 known rare diseases, and new rare diseases still being discovered. It is estimated that more than 70 million (7 crores) people may be suffering from rare diseases in India, however, there are no mechanisms in place to even collect proper epidemiology data and statistics around rare diseases.
This is part of a larger problem around the occurrence and treatment of rare disease in India and globally. Rare diseases are hard to detect as doctors and hospitals may not be properly trained or equipped for them. Worse, these diseases are chronic, cause serious disability, and often premature death. These diseases are complex and often there may be no treatment or not very effective treatment. If there is a treatment available, it could be extremely expensive, placing a large economic burden on patients.
About 450 rare diseases are known to occur in India. However, there is no coherent government policy in place to handle such patients. A coherent public policy could provide large benefit including: Developing and conducting relevant training programs for healthcare providers, doctors, and hospitals Improve research and development for these diseases including treatment, diagnostics, and new drug development Reduce the cost burden on families dor these diseases by encouraging local manufacturing, drug price control, and insurance coverage Generating awareness about rare diseases amongst the public * Collect statistical information around such diseases
India implemented national policy for the treatment of rare diseases (NPTRD) in June 2017 but the government withdrew this policy in December 2018. Instead, a 10-member committee has been constituted to draft a revised policy. There are no stop-gap measures put in place until the new policy is implemented. Several states had constituted local policies in accordance with the now “suspended” national policy. It has to be seen if all of that work will need to be redone.
The newly constituted committee is expected to meet early next year to chalk out a new policy. We hope that the government takes bold and comprehensive steps to help patients of rare diseases. It should include a policy to promote new drug development for rare diseases similar to the Orphan Drug Act which provides incentives to pharmaceutical companies developing new medicines for rare diseases in the United States since 1983. It should also include a plan to help generic substitution for existing medicines and other cost control measures.
The “suspended” policy had laid out a sum of Rs. 100 crores as a yearly corpus to help with the treatment costs for rare disease patients. With about 7 crore patients for these rare diseases, this comes to about Rs. 15 (about $ 0.20) per patient per year. This is about the daily cost of a fever medication in India. If the government is really serious about this issue, it should consider a comprehensive plan to cover patients under the government's Ayushman Bharat scheme or similar large-scale health coverage proposals.
Lastly, the government needs to take concrete steps towards launching a massive campaign to train healthcare providers and generate awareness for rare diseases.