While there are about 5,000-8,000 known rare diseases, cures are known for less than 5% of these.
The substantive part of the Centre’s proposed policy on rare diseases—extending medical cover of upto Rs 15 lakh for a one-time treatment in the case of certain treatable rare diseases at tertiary hospitals to the beneficiaries of the PM Jan Arogya Yojana—may not prove a healing touch. Rare diseases often require phased or lifelong treatment and these can be quite expensive. But, meant for people who can’t even afford the basic care for such diseases, it is actually a big step forward. That said, to be successful in making any manner of dent against such diseases, India needs epidemiological data on these, something that it sorely lacks. The data unavailability hampers efforts to define and identify rare diseases; the resulting lack of awareness leads to multiple misdiagnoses and prolonged suffering for patients. While the draft bill does propose encouraging research into rare diseases in India, and speaks of a National Registry for Rare Diseases to be developed by the Indian Council for Medical Research, it does not lay out any actionable measures to do so.
Globally, as many as 300 million people suffer from rare diseases. While there are about 5,000-8,000 known rare diseases, cures are known for less than 5% of these. In India, so far, only about 450 diseases that are globally recognised as rare have been recorded. The medical cover proposed by the draft bill extends only to a minority of diseases that can be cured—severe combined immunodeficiency, polycystic kidney disease, tyrosinemia, etc. The decision, and onus, of supporting patients that require lifelong care has been left entirely to the state governments. While resource constraint is a real factor—the government had planned a corpus of `100 crore to fund treatment of rare genetic diseases in 2017, but this, too, fell through due to budget limitations—the Centre would, perhaps, be well-advised to invest in palliative care units and pain management centres, and building an infrastructure of healthcare workers to aid those excluded from medical coverage for treatment in the draft bill.