The Central Government recently released National Policy for rare diseases. The Policy aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness generation, premarital, post-marital, pre-conception and post-conception screening and counselling programmes to prevent births of children with rare diseases.
There are 7,000-8,000 classified rare diseases, but less than 5% have therapies available to treat them. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment. WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources.
These diseases have differing definitions in various countries and range from those that are prevalent in 1 in 10,000 of the population to 6 per 10,000. India has said it lacks epidemiological data on the prevalence and hence has only classified certain diseases as ‘rare.’ Where drugs are available, they are prohibitively expensive, placing immense strain on resources.
National Policy for Rare Diseases, 2021 provides for National Consortium for Research and Development on therapeutics for Rare Diseases with an expanded mandate to include research & development, technology transfer and indigenization of therapeutics for rare diseases. It will be convened by Department of Health Research (DHR) with ICMR as a member.