National Policy for Rare Diseases 2021 — Categorisation, Funding and Patient Access (UPSC Indian Society)

A rare disease is defined in most countries as one affecting fewer than 5 per 10,000 people. India estimates 7-9 crore persons may be living with 7,000+ rare diseases — the long tail of biology. Treatments are scarce, expensive and often life-long. A single patient with spinal muscular atrophy (SMA) may require medicines costing Rs 16 crore for a one-time gene therapy or Rs 6 lakh per month for maintenance.

The National Policy for Rare Diseases (NPRD) 2021 is India's first comprehensive policy framework on the issue. This guide explains its architecture, funding mechanism and implementation gaps.

What is a Rare Disease?

• WHO — no universal definition; country-specific.
• Indian Council of Medical Research (ICMR) maintains a national registry.
• NPRD 2021 does not fix a prevalence threshold but identifies disease categories.

Examples:

• Lysosomal storage disorders (Gaucher, Fabry, Pompe, Hunter).
• Spinal Muscular Atrophy (SMA).
• Haemophilia.
• Thalassemia.
• Duchenne Muscular Dystrophy (DMD).
• Congenital adrenal hyperplasia.
• Cystic fibrosis.
• Wilson's disease.
• Severe combined immunodeficiency.
• Primary immunodeficiencies.

Why a National Policy?

• Exorbitant treatment costs — orphan drugs are some of the most expensive in the world.
• Diagnostic delays — average diagnostic odyssey 5-7 years globally.
• Research gaps — few trials in Indian populations.
• Limited specialised centres — mainly metros.
• No structured public funding for treatment.

NPRD 2021 — Key Features

Three Categories

Group 1: Diseases amenable to one-time curative treatment —

• Examples: bone marrow transplant for immune deficiencies, osteopetrosis.
• Funding: up to Rs 50 lakh per patient (revised from earlier Rs 20 lakh).

Group 2: Diseases requiring long-term or life-long treatment with relatively low cost —

• Examples: phenylketonuria, tyrosinemia.
• Managed through State Health Systems.
• Support through Centres of Excellence.

Group 3: Diseases requiring life-long treatment with very high cost —

• Examples: Gaucher, Pompe, SMA.
• Initially not covered by financial assistance; 2023 revision extended Rs 50 lakh ceiling to Group 3 as well through the Rashtriya Arogya Nidhi (RAN).

Centres of Excellence (CoEs)

12 Centres of Excellence designated (as of 2024):

• AIIMS New Delhi, Mumbai, Kolkata, Chennai.
• PGIMER Chandigarh.
• SGPGIMS Lucknow.
• CMC Vellore.
• NIMHANS Bengaluru.
• CDFD Hyderabad.
• ICH Kolkata.
• KEM Hospital Mumbai.
• IPGMER Kolkata.

Functions:

• Diagnosis of rare diseases.
• Treatment including drug therapy.
• Genetic counselling and carrier testing.
• Research and training.
• Registry maintenance.

Nidan Kendras

Pre-marital, pre-conception, prenatal and post-natal genetic testing and counselling centres being set up in partnership with CoEs.

Crowdfunding Platform

• Digital crowdfunding platform launched in 2022 via CoEs.
• Allows individuals, corporates, NGOs, CSR contributors to donate for specific patients.
• Tax exemption under Section 80G.
• Payment directly to CoE for treatment.

Rashtriya Arogya Nidhi (RAN)

• Umbrella fund for catastrophic medical conditions.
• Financial assistance up to Rs 50 lakh for rare diseases.
• Umbrella Scheme of Rashtriya Arogya Nidhi (URAN) processes applications.

Funding Mechanisms

• Direct government contribution through Rashtriya Arogya Nidhi.
• Crowdfunding via CoE platforms.
• CSR contributions — several corporates have set up rare disease funds.
• State health systems for Group 2 long-term care.

Implementation Challenges

Delays in Fund Release

• Patient families report delays in RAN approvals.
• Time-critical conditions suffer from slow bureaucratic processes.

Limited CoE Geographic Coverage

• Most CoEs are in metros.
• Patients from smaller towns travel for diagnosis and treatment.

Drug Availability

• Many rare-disease drugs are not manufactured in India.
• Import duties initially high; Budget 2024-25 exempted 27 life-saving drugs for rare diseases from basic customs duty.

Research Capacity

• Few Indian clinical trials for rare-disease therapies.
• Indigenous drug development for rare diseases nascent.

Policy Gaps

• No statutory framework — NPRD is a policy document, not legislation.
• Supreme Court interventions in SC Court on its Own Motion vs Union of India (2024) directed continuation of funding for SMA patients.

Indigenous Drug Development

• CDSCO has expedited orphan drug approval pathway.
• DBT-BIRAC and CSIR supporting rare disease research.
• Early success: CSIR-IGIB's adaptation of genetic diagnostic tools for SMA.
• Indigenous Amifampridine for Lambert-Eaton myasthenic syndrome — developed and deployed at fraction of global cost.

Patient Advocacy

• Rare Diseases India Foundation (RDIF).
• Organization for Rare Diseases India (ORDI).
• LSD Support Society.
• Cure SMA Foundation of India.

These groups have been central in pushing policy reform and supporting patient access.

Latest Developments (2024-26)

Funding Ceiling. Rs 50 lakh limit per patient for Groups 1, 2, 3 confirmed.

Customs Duty Exemption. Budget 2024-25 exempted 27 life-saving drugs for rare diseases from basic customs duty.

CoE Network. Additional CoEs being considered for Tier-2 cities.

Supreme Court Monitoring. Ongoing monitoring of SMA and other rare-disease funding compliance through 2024-25.

Indigenous Drug Development. CSIR-IGIB and other institutes working on cost-effective therapies.

Caste Census 2025. Union Cabinet approved caste enumeration in the next national census (April 2025); rare-disease prevalence data by demographic disaggregation will be refined.

MPI 2024. Global Multidimensional Poverty Index 2024 confirmed 415 million Indians exited multidimensional poverty between 2005-06 and 2019-21; rare diseases remain a catastrophic health expenditure driver even among households outside poverty.

Women's Reservation Act. The Nari Shakti Vandan Adhiniyam 2023 — post-delimitation implementation; rare-disease advocacy groups note women and girl-child patients face intersectional access challenges.

Global Gender Gap Index 2024. India ranked 129/146; rare-disease registry and outcomes data needs gender disaggregation.

Policy Recommendations

• Statutory framework for rare diseases.
• Universal fund beyond Rs 50 lakh for ongoing high-cost treatments.
• Decentralised CoEs in Tier-2 cities.
• Mandatory newborn screening for treatable rare diseases.
• Indigenous manufacturing through PPPs and public undertakings.
• Clinical trial incentives — tax credits, fast-track approvals.
• Insurance coverage — PMJAY extension for rare disease high-cost packages.
• Patient registries with gender, caste and regional disaggregation.

UPSC Relevance

GS Paper II — Governance, Social Justice

• Issues relating to development and management of social sectors/services — health.
• Welfare schemes for vulnerable sections.

GS Paper III — Science and Technology

• Biotechnology; indigenous drug development.

Possible mains questions

1. "The National Policy for Rare Diseases 2021 is a welcome start but requires statutory backing. Examine." (250 words)
2. "Crowdfunding is not a substitute for a universal rare disease fund. Discuss." (150 words)
3. "Indigenous drug development is essential for sustainable rare-disease care. Evaluate." (150 words)

Prelims pointers. NPRD 2021; three groups (curative, low-cost chronic, high-cost chronic); Rs 50 lakh per patient ceiling; Rashtriya Arogya Nidhi / URAN; 12 Centres of Excellence; crowdfunding platform (2022); Budget 2024-25 customs duty exemption on 27 drugs; CDSCO orphan drug pathway; CSIR-IGIB; Nidan Kendras.

Essay themes. "The long tail of biology"; "Care for the few, justice for all"; "Orphan diseases, adoptive state".

Rare diseases test a public health system's conscience and capacity. India's NPRD 2021 is the beginning of a framework that must mature into legislation, universal funding and indigenous manufacturing.

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