Analyze the challenges faced by India in addressing rare diseases. Discuss the measures already taken by the government and suggest further actions needed to improve the ability of the healthcare ecosystem to deal with such diseases.

Why?

India accounts for one-third of the global rare disease incidence, but due to resource constraints, lack of awareness, inadequate diagnosis, and insufficient drug development, it struggles significantly in effectively managing these conditions.

Approach:

• Introduce your answer with what are rare diseases and give data on their incidence in India.
• In the main body, address the challenges faced in addressing rare diseases like limited awareness and diagnosis, Scarce treatment options, Insufficient funding, etc. Next talk about the National Policy on Rare Diseases 2021 and the measures taken under it like financial support, Establishment of CoEs, etc. Suggest measures needed like R&D incentives, Community engagement and support services, Public-private partnerships, etc.
• Conclude your answer by emphasizing the need for more proactive measures to ensure quality of life for individuals affected by rare diseases.

Answer:

Rare diseases are medical conditions affecting a small percentage of the population. India has a significant burden of rare diseases, affecting an estimated 8 to 10 crore individuals, majority being children. India, despite making progress in tackling diseases like Kala Azar, faces several hurdles in addressing rare diseases effectively.

Challenges Faced by India in Addressing Rare Diseases:

• Lack of Awareness and Early Diagnosis: There’s a significant gap in awareness about rare diseases among the general public and healthcare professionals in India, leading to delays in diagnosis.
  • Lysosomal Storage Disorders (LSDs) are often diagnosed late.
• Inadequate Research and Data: There’s a scarcity of research and comprehensive data on rare diseases in India, hindering the development of effective treatments.
• High Cost of Treatment: for rare diseases, including drugs known as orphan drugs, are extremely expensive and often not accessible to the average Indian.
  • The treatment for Spinal Muscular Atrophy (SMA) can cost upwards of ₹16 crore.
• Limited Access to Healthcare Facilities: Specialized healthcare facilities for rare diseases are concentrated in urban areas, leaving rural populations underserved.
• Social Stigma and Isolation: are faced by families affected by rare diseases due to a lack of understanding among the public.
• Limited Insurance and Financial Support: Most health insurance policies in India do not cover the cost of treatment for rare diseases, making it difficult for patients to afford necessary care.
• Orphan Drug Development: is often not seen as commercially viable without government incentives and support due to the small market size.

Measures Taken by the Government:

• National Policy for Rare Diseases 2021: The policy aims to lower the high cost of treatment for rare diseases through financial support of up to Rs. 50 lakhs and a focus on indigenous research.
  • Includes provisions for a crowdfunding mechanism and support for patients requiring one-time treatment.
• Establishment of Centres of Excellence: The government has identified and funded centers of excellence across India to provide comprehensive care for rare diseases.
  • Designation of eight health facilities as ‘Centres of Excellence’ and one-time financial support of up to Rs. 5 crores for upgrading diagnostic facilities.
• Financial Assistance under Rashtriya Arogya Nidhi: up to Rs. 20 lakhs for rare diseases listed under Group 1, regardless of their poverty status.
• Exemption of Basic Customs Duty: on imported drugs for rare diseases to reduce treatment costs.
• National Registry for Rare Diseases: by the Indian Council of Medical Research (ICMR) to collect data on rare diseases.
• Promotion of Indigenous Research: and development of treatments by ICMR for rare diseases within India.
• Awareness Programs: to increase knowledge about rare diseases among healthcare professionals and the public.
• Regulatory Reforms: Fast-tracking approval for orphan drugs and providing subsidies to pharmaceutical companies developing treatments for rare diseases.

Further Actions Needed:

• Enhanced Funding: for rare diseases and expand insurance coverage to include orphan drugs and treatments.
• Strengthen Healthcare Infrastructure: Establish more centers of excellence and specialized care units in rural and underserved areas.
• Foster Public-Private Partnerships: to stimulate research and development of treatments for rare diseases.
• Educational Programs: targeting healthcare professionals to improve diagnosis and treatment of rare diseases.
• Legislative Measures: to protect the rights and interests of rare disease patients, ensuring access to care and treatment.
• Community Support and Rehabilitation: for patients and families affected by rare diseases.

While significant strides have been made with the National Policy for Rare Diseases 2021, there is still a long way to go. Through concerted efforts from all stakeholders, India can hope to provide a better quality of life for individuals affected by rare diseases and move towards a more inclusive and equitable healthcare system.

‘+1’ value addition:

• Examples of Rare Diseases – Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, haemophilia etc.
• The National Health Portal (Government of India) estimates that there are about 7,000 rare diseases, with about 70% being genetic.
• “Bridging RARE Summit 2023” – India and USA joint collaboration to Combat Rare Diseases.
• Recently, the Delhi High Court established the National Rare Diseases Committee, to implement the Centre’s rare diseases policy effectively.