The Delhi High Court’s recent move to establish a five-member panel, known as the National Rare Diseases Committee, to enhance the effective implementation of the Centre’s rare diseases policy is an encouraging development. This committee’s main responsibility will be to pave the way for the full execution of the National Rare Disease Policy, 2021. The focus at all times will be on patients enrolled at the All-India Institute of Medical Sciences (AIIMS), Delhi, with the goal of ensuring they receive timely treatment and benefit from the policy.
Understanding Rare Diseases
Rare diseases are a category of health conditions that are not widespread, impacting a relatively small number of individuals compared to other common diseases in the general population. Approximately 6,000-8,000 rare diseases have been identified, but less than 5% of these have available treatments. Examples include Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, and haemophilia. It’s estimated that 95% of rare diseases lack approved treatment and only about 1 in 10 patients receive disease-specific treatment. A significant majority, 80%, of these diseases are genetic in origin.
The exact definition of what constitutes a ‘rare disease’ varies from one country to another. Generally, they range from those prevalent in 1 in 10,000 of the population to 6 per 10,000. Often, these diseases can be serious, chronic, possibly life-threatening and primarily affect children, leading to high morbidity and mortality rates.
The National Rare Diseases Committee: Who are they and what do they do?
Comprising five members, the National Rare Diseases Committee was established by the Delhi High Court to address the complex challenges posed by rare diseases. The Committee consists of experts from related fields, such as medical professionals, policymakers and representatives from healthcare institutions.
Their main responsibilities include assessing cases of patients enrolled with AIIMS, Delhi to determine their medical needs and plan treatment, implementing the National Rare Disease Policy, fostering collaboration within the medical community, therapy providers and governmental agencies, and ensuring timely treatment for patients by identifying sources for necessary therapies and drugs.
The National Rare Disease Policy 2021: Aims and Provisions
The major goal of the National Rare Disease Policy 2021 is to amplify focus on indigenous research, promote local production of medicines, reduce treatment costs for rare diseases, and facilitate early screening and detection for prevention. Major provisions of the policy are:
1. Categorization of diseases into three groups based on nature and duration of treatment needed.
2. Provision for financial support up to Rs. 50 lakhs for patients suffering from any category of the Rare Diseases and treatment at the Centre of Excellence (CoE), and up to Rs. 20 lakhs under Rashtriya Arogya Nidhi for rare diseases under Group 1.
3. Designation of eight health facilities as ‘Centres of Excellence’ with one-time financial support for upgrading diagnostic facilities.
4. Creation of a national hospital-based registry of rare diseases to provide comprehensive data and definitions for research and development purposes.
Despite these positive steps, there are concerns including lack of sustainable funding for patients with Group 3 disorders, prohibitive costs of drugs for rare diseases, and scarcity of global and domestic manufacturers of drugs for rare diseases.
