Why is it in the news?

• Rare Diseases Day is commemorated on the final day of February, with the 2024 theme being “Share your colours.”

About Rare Diseases

• Rare diseases are defined as disorders with a prevalence of 1 or less per 1000 population, often lifelong and debilitating.
• In India, due to its large population, the suggested threshold for defining rare diseases is 1 in 10,000 individuals.
• Globally, there are estimated to be between 6000 to 8000 rare diseases, with new ones regularly reported in medical literature.

Rare Diseases in India

• India accounts for a significant portion, approximately one-third, of the global rare disease incidence.
• Over 450 rare diseases have been identified in India, ranging from relatively well-known conditions such as Spinal Muscular Atrophy and Gaucher’s disease to lesser-known disorders like Mucopolysaccharidosis type 1 and Whipple’s disease.
• An estimated 8 to 10 crore Indians are affected by rare diseases, with over 75% being children.

Challenges in Diagnosis and Treatment

• Late Diagnosis: Rare disease patients face an average seven-year delay in diagnosis due to the complexity and rarity of their conditions.
• Physician Awareness: Physicians often lack awareness and expertise in interpreting the signs and symptoms of rare diseases, leading to misdiagnosis or delayed diagnosis.
• Limited Treatments: Less than 50% of the 450 identified rare diseases in India have approved treatments available, with only about 20 rare diseases having treatments approved by the Drugs Controller General of India, accessible only through Centres of Excellence (CoEs).
• Funding Constraints: Although the budget allocation for rare diseases has been increasing, it remains insufficient, with up to ₹50 lakh allowed per patient under current guidelines, which is inadequate for the lifelong management and therapy required for chronic rare diseases.

Policy Initiatives in India

• National Policy for Rare Diseases (2017): Aimed to provide financial support for the treatment of rare diseases, including funding for diagnosis and treatment under the Rashtriya Arogya Nidhi scheme. However, implementation has faced delays.
• National Policy for Rare Diseases 2021: A comprehensive policy focusing on prevention, awareness, doctor training, funding support, research promotion, and affordable diagnostics.
• Centre of Excellence: Nine Centres of Excellence have been established in premier government tertiary hospitals to provide diagnosis, prevention, and treatment services for rare diseases.

Way Forward

• Establish a uniform definition for rare diseases in India to streamline diagnosis and treatment protocols.
• Enhance funding for rare disease management to ensure adequate resources for diagnosis, treatment, and support services.
• Increase the number of Centres of Excellence (CoEs) across the country to improve accessibility to specialized care for rare disease patients.
• Encourage collaboration between government entities, private sector organizations, and civil society to mobilize resources and expertise for rare disease initiatives.
• Provide incentives for domestic pharmaceutical companies to invest in research and development of treatments for rare diseases.
• Explore innovative approaches such as repurposed drugs, bulk imports, and streamlined regulatory processes to address treatment shortages and affordability issues.