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.”

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).

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).

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.

The National Policy for Rare Diseases (NPRD) was formulated by the Ministry of Health and Family Welfare (MoHFW) and launched in 2021 to provide a systematic framework for the prevention, diagnosis, and treatment of patients suffering from rare diseases in India.
Under the Act, rare diseases have been identified and categorized into 3 groups:
1. Group 1: Diseases curable through one-time procedures (e.g., organ transplants).
2. Group 2: Diseases requiring long-term, relatively affordable treatment, with regular check-ups.
3. Group 3: Diseases for which treatments are available but expensive, often requiring lifelong therapy.
Financial support of up to Rs. 50 lakhs per patient is provided for the treatment at the notified Centres of Excellence (CoEs) for Rare Diseases.

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.