Why in News: India faces a high burden of rare genetic diseases due to social practices like endogamy. The development of GenTIGS, a gene database, is helping improve diagnosis. Efforts in genetic screening and awareness are crucial to prevent and manage these diseases.
What are Rare Diseases?
Definition:
- According to the World Health Organization (WHO), a rare disease is a debilitating lifelong disease or disorder that affects 1 or fewer individuals per 1,000 population.
- Examples: Fanconi Anemia, Osteopetrosis, etc.
Country-Specific Definitions: Different countries adopt their own definitions of rare diseases, tailored to:
- Their population size,
- Healthcare infrastructure, and
- Resource availability.
This variation ensures that national policies are relevant and feasible within each country’s specific context.
Rare Diseases in India
National Policy for Rare Diseases, 2021 (NPRD, 2021):
- Currently lists 63 rare diseases,
- Classifies them into three groups, based on factors such as treatment availability and cost burden (see infographic in original document).
- The classification and disease list are updated periodically.
Updating Mechanism:
- Revisions are made based on scientific developments and
- Recommendations from the Central Technical Committee for Rare Diseases.
Classification of Rare Diseases in India (NPRD 2021)
Group 1:
- Diseases Amenable to One-Time Curative Treatment
- These conditions can be effectively treated through a one-time intervention, such as an organ or stem cell transplant.
- Example:Â Fabry Disease
Group 2:
- Diseases Requiring Long-Term Treatment with Lower Costs and Documented Benefits
- These diseases require ongoing therapy but the cost is relatively manageable, and the treatment outcomes are well established.
- Examples: Phenylketonuria (PKU), Homocystinuria
Group 3:
- Diseases with Definitive but High-Cost Lifelong Treatment
- Extremely expensive,
- Require lifelong therapy, and
- Present difficulties in patient selection, i.e., not all patients may benefit equally.
- Examples: Gaucher Disease, Pompe Disease
Importance of Raising Awareness
- Many doctors may never encounter rare diseases and often lack awareness about them.
- Without proper reporting to disease registries, accurate data on patient numbers remains unavailable.
Reliable data is crucial for:
- Formulating policies to support patients.
- Helping patients connect with each other.
- Encouraging industry to develop targeted therapies.
Advances in Identification: The GenTIGS Database
- Iliyas Rashid and his team at the Tata Institute for Genetics and Society, Bengaluru, have developed GenTIGS, a gene database on rare genetic disorders.
- GenTIGS allows users to select symptoms to predict possible rare diseases.
- This information can aid families in consulting doctors and seeking support from patient groups.
Initiatives to Tackle Rare Diseases
A. Global Initiatives
1. WHO’s Fair Pricing Forum
- Aims to promote dialogue among regulators, insurers, pharmaceutical companies, and patient groups.
- Focuses on ensuring sustainable and fair access to essential medicines, including orphan drugs used for rare diseases.
2. Rare Diseases International (RDI)
- A global alliance representing people living with rare diseases across nationalities and disease categories.
- Works to advocate for universal health coverage and equity for rare disease patients worldwide.
B. Indian Initiatives
1. National Policy for Rare Diseases (NPRD), 2021
- Seeks to reduce the burden of rare diseases through a comprehensive preventive strategy.
- Provides financial support up to ₹50 lakh per patient for treatment at designated Centres of Excellence (CoEs).
2. National Consortium for Research and Development on Therapeutics for Rare Diseases (NCRDTRD)
- Established to coordinate and streamline research efforts on rare disease therapies across institutions.
3. Rashtriya Arogya Nidhi (RAN)
- Offers financial assistance to economically weaker patients suffering from rare diseases.
4. Tax Exemptions
- GST and Basic Customs Duty waived on drugs imported for the treatment of rare diseases: For personal use, Through designated CoEs
5. Regulatory Relaxation by Drugs Controller General of India (DCGI)
- As per Rule 101 of the New Drugs and Clinical Trials Rules, 2019,
- The Central Drugs Standard Control Organisation (CDSCO) has waived local clinical trials for rare disease drugs already approved in countries like the USA, UK, and Japan.
Issues in Managing Rare Diseases in India
1. High Prevalence Rate
- India accounts for nearly one-third of global rare disease cases.
- Over 450 rare diseases have been identified in the country.
- Social practices like endogamy contribute to the higher genetic disease burden.
2. Limited Clinical Trials
- Globally, over 8,000 clinical trials are underway for rare diseases.
- However, fewer than 80 trials (<0.1%) have a trial site in India, limiting patient access to new treatments and slowing domestic innovation.
3. Lack of Standard Definition
- India lacks comprehensive epidemiological data, making it difficult to define rare diseases uniformly.
- The absence of a consistent definition hampers effective policy design, data collection, and treatment strategies.
4. Low Budgetary Support
- The Union Budget 2023–24 allocated ₹93 crore for rare diseases.
- Though this represents a gradual increase, it remains insufficient considering the scale and cost of treatment involved.
5. Underutilization of Funds by Centres of Excellence (CoEs)
- Of the ₹71 crore allocated for patient financial assistance across 11 CoEs, over ₹47 crore remains unutilized.
- This indicates implementation challenges, possible bureaucratic delays, or lack of awareness among eligible patients.
Way Forward for Managing Rare Diseases in India
1. Strengthen Financial and Institutional Mechanisms
- Establish National Fund for Rare Diseases (NFRD) with ₹974 crore (FY 2024–26).
- Ensure funds are not lapsed and are managed by a dedicated cell in MoH&FW with nodal officers.
- Continue NRDC (chaired by DG, ICMR) for 5 more years to guide rare disease policy.
2. Improve Information and Accessibility
- Launch a National Rare Disease Portal within 3 months for patient registry, treatment access, and public awareness.
- Expand Centres of Excellence (CoEs) in underserved areas for better diagnosis and treatment.
3. Regulatory and Industry Reforms
- Fast-track approval for rare disease drugs and therapies.
- Waive local trials for drugs approved in US, UK, Japan, etc.
- Monitor global trials to improve patient enrollment from India.
- Pharmaceutical companies to submit plans for local manufacturing/distribution within 90 days.
4. Financial Flexibility and CSR Involvement
- Allow flexibility in ₹50 lakh cap for Group 3 diseases based on NRDC advice.
- Include donations for rare diseases in CSR Schedule VII of Companies Act.
5. Data and Research Strengthening
- Strengthen epidemiological research and finalize a standard definition.
- Expand National Registry for real-time rare disease data.
- Promote domestic drug manufacturing under the PLI Scheme.
UPSC Relevance
GS Paper 2 – Governance, Health, Social Justice
- Health policy and rare diseases
- Regulatory reforms and challenges in public healthcare delivery
GS Paper 3 – Science & Technology
- Advances in medical research (GenTIGS database)
- Role of data, research, and innovation in healthcare
Mains Practice Question
Q. The effective management of rare diseases in India demands a multi-pronged approach, involving scientific innovation, regulatory reform, and social awareness.Critically examine India’s existing policy framework for rare diseases. What more needs to be done?
