Rare Diseases

• The Delhi High Court ordered the Centre to operationalise the National Policy for Rare Diseases 2021 (NPRD) and establish a ₹974 crore National Fund for Rare Diseases.

What are Rare Diseases?

• Rare diseases, also known as orphan diseases, are medical conditions that affect only a small number of people compared to the general population.
• Although each individual rare disease affects few patients, collectively they represent a significant public health challenge due to their chronic, disabling, and often life-threatening nature.
• World Health Organization (WHO) defines a rare disease as an “often debilitating lifelong disease or disorder with a prevalence of 1 or less per 1,000 population.”

Current Status of Rare Diseases in India

• Recognised Disorders:  India accounts for one-third of the global rare disease incidence, with over 450 rare genetic diseases, affecting an estimated 70–96 million citizens (ICMR 2023).
• Major Rare Diseases: Spinal Muscular Atrophy, Gaucher’s disease, and Whipple’s disease.
• Centres of Excellence: 12 CoEs, including AIIMS Delhi, ICH Chennai, have approved treatment protocols.
• Drug Access: 95 % of orphan drugs are imported, raising annual therapy costs to ₹3–5 crore per patient.
• Psychological Trauma: 62 % of caregivers report depression and burnout (MoHFW review 2024).
• Financial Catastrophe: 78 % of rare-disease families incurred catastrophic health expenditure (> 25 % of income); 41 % sold assets (NHP 2024).

Challenges in Tackling Rare Diseases

• High Cost of Orphan Drugs: These drugs remain expensive due to patents and limited production. Small market size discourages pharmaceutical companies from producing them.
• Average therapy cost equals 80× India’s per-capita income.
• Inadequate Access to Financial Support: Under the National Policy for Rare Diseases (NPRD), financial assistance is capped at Rs 50 lakh, but patients often struggle to receive funds in a timely manner.
• Limited Availability of Treatments: Less than 10% of patients receive disease-specific care due to high costs and limited drug availability.
• Red Tape and Delays: Bureaucratic delays, such as approval from the Drug Controller General of India (DCGI), hinder the timely import of essential drugs.
• Data Deficiency: National rare-disease registry covers only ≈ 1,500 patients vs millions estimated.
• Weak Coordination: Only 5 States have operational State Nodal Offices (MoHFW review 2024).

Initiatives to Tackle Rare Diseases in India

• National Policy for Rare Diseases 2021: Core framework by MoHFW for diagnosis and treatment.
• National Fund for Rare Diseases: ₹974 crore fund to finance high-cost therapies.
• Digital Crowdfunding Portal (2022): This is a platform for voluntary donations that allows donors to contribute directly to specific patients’ treatments.
• Customs & IGST Exemption (2022): Full tax exemption on imported orphan drugs and medical devices.
• Patient Registry (ICMR–NIMS): National database for tracking patients and improving research.
• State Rare-Disease Cells: Formed in Kerala, Karnataka and Delhi for decentralised implementation.

Way Forward

• Incentivize Local Drug Manufacturing: Encourage pharmaceutical companies to produce orphan drugs in India through tax breaks and subsidies. Extend PLI Scheme to orphan-drug and gene-therapy R&D to reduce imports, similar to South Korea’s Orphan Drug Development Programme.
• Create a National Mission: Launch a dedicated Rare Disease Mission under MoHFW with a ring-fenced annual budget and measurable treatment outcomes, modelled on India’s National Cancer Grid.
• Streamline Approvals: Reduce delays in regulatory approvals from bodies like the DCGI for imported medicines to ensure timely patient care. E.g. South Korea’s fast-track approval system.
• Legislative Backing: Enact a Rare Diseases (Prevention and Treatment) Act, ensuring statutory entitlement and continuity of care.
• Integrate Early Screening: Add newborn genetic testing under Ayushman Bharat for early detection and prevention, like Japan’s “Health Japan 21” model.