The Ministry of Health & Family Welfare has approved the “National Policy for Rare Diseases 2021” after multiple consultations with different stakeholders and experts in the area. The Rare Diseases Policy aims to lower the high cost of treatment for rare diseases with an increased focus on indigenous research with the help of a National Consortium to be set up with the Department of Health Research, Ministry of Health & Family Welfare as convenor. Increased focus on research and development and local production of medicines will lower the cost of treatment for rare diseases. The policy also envisages the creation of a national hospital-based registry of rare diseases so that adequate data is available for the definition of rare diseases and for research and development related to rare diseases within the country.
The Policy also focuses on early screening and prevention through primary and secondary health care infrastructure such as Health and Wellness Centres and District Early Intervention Centres (DEICs) and through counselling for the high-risk parents. The screening will also be supported by Nidan Kendras set up by the Department of Biotechnology. The policy also aims to strengthen tertiary health care facilities for prevention and treatment of rare diseases through designating 8 health facilities as Centre of Excellence and these CoEs will also be provided one-time financial support of up to Rs 5 crores for upgradation of diagnostics facilities.
A provision for financial support up to Rs 20 lakhs under the Umbrella Scheme of Rashtriya Arogya Nidhi is proposed for treatment of those rare diseases that require a one-time treatment (diseases listed under Group 1 in the rare disease policy). Beneficiaries for such financial assistance would not be limited to BPL families, but the benefit will be extended to about 40% of the population, who are eligible under Pradhan Mantri Jan Arogya Yojana.
Besides, the Policy also envisages a crowdfunding mechanism in which corporates and individuals will be encouraged to extend financial support through a robust IT platform for the treatment of rare diseases. Funds so collected will be utilized by Centres of Excellence for treatment of all three categories of rare diseases as the first charge and then the balance financial resources could also be used for research.
What are rare diseases?
WHO defines a rare disease as an 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 the context of their own population, the health care system and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). The EU defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04%) in the country.
India faces the limitation of lack of epidemiological data to be able to define rare diseases in terms of prevalence or prevalence rate, which has been used by other countries. To overcome this, a hospital-based National Registry for Rare Diseases has been initiated by ICMR by involving centres across the country that are involved in the diagnosis and management of Rare Diseases. This will yield much needed epidemiological data for rare diseases.