Ailing sans policy: India is yet to have a formal policy for rare diseases

By Sandeep Arora

The global average for those affected by rare disease stands at 40-50 cases, mostly genetic cases, for every 100,000 people. This, when compared to other prevalent diseases, is fractional yet unsurmountable. There are approximately 5,000-8,000 rare diseases, although 80% of all patients are affected by only 400 of these rare diseases. According to the new clinical trials rules released in 2019, a rare disease drug or an “orphan drug” is intended to treat a condition that affects not more than five lakh persons in India. Of the above mentioned, only 400 rare diseases are acknowledged.

Statistics show that India has close to ~50-100 mn people affected by rare diseases in a population above 1.3 bn people. Almost 80% of these are children. A leading cause for most of them not reaching adulthood is the high morbidity and mortality associated with these rare and life-threatening diseases. Despite affecting a significant number of the population, there is yet to be a formal policy for rare diseases to address the challenges of affordability and accessibility. The cost of treatment for rare diseases is often exorbitant and life-long for most patients. This situation demands a proactive policy to be constituted at the earliest. The urgency is propelled by the fact conditions of rare diseases are not covered under the terms of general health insurance policies.

Aside from the challenges patients and their caregivers face with regards to awareness and affordability, one cannot disregard the socio-economic burden. The lack of an Indian centralized clinical registry of rare disease patients results in some patients taking up to seven years to be diagnosed accurately. It is believed that it takes a minimum of three different “mis-diagnosis” before patients are correctly assessed. Certain rare diseases that have both, diagnostic, and treatment options such as primary immunodeficiencies (PIDs), hemoglobinopathies, muscular dystrophies, metabolic disorders such as Lysosomal storage disorders (LSDs), and certain neurological disorders need urgent attention. LSDs having more than 50 rare genetic & metabolic diseases form a significantly high burden. An effective policy intervention that can extend financial assistance programmes to those suffering is needed.

In 2017, MoHFW released a National Policy for Treatment of Rare Diseases, subsequently replaced by a draft release in January 2020, for treatment of approximately 450 ‘rare diseases’. The elusive policy for rare diseases in progress needs to address the immediate requirement of a centralised registry under ICMR, and that defines the three categories of rare diseases—(a) requiring one-time but curative treatment, (b) diseases that require long-term treatment but where the cost is low, and (c) those needing long-term treatments but require high cost. The draft in existence has mentioned that financial assistance will be provided for rare diseases that run up to Rs 15 lakh that but only to those patients that have curative therapy and fall under Rashtriya Arogya Nidhi scheme or PMJAY.

At the diagnosis and treatment level, the policy should address physician training, availability of affordable diagnosis, standard treatment protocols, and availability of drugs to reduce the rare disease burden. There are specialised private facilities and govt centres that offer and provide specific tests for several rare diseases including blood disorders, metabolic disorders such as LSDs, muscular dystrophies, among others.

The author is Medical affairs head, Takeda India