In India, the management of rare diseases is hindered by significant challenges, notably in early diagnosis and the affordability of treatments.
Challenges in Early Diagnosis
Early diagnosis of rare diseases in India faces several obstacles:
- Lack of Awareness: Primary care physicians often lack sufficient knowledge about rare diseases, leading to misdiagnoses or delayed diagnoses. Ministry of Health and Family Welfare
- Inadequate Diagnostic Facilities: The country has a limited number of specialized centers equipped to accurately diagnose rare conditions, making timely identification difficult. Ministry of Health and Family Welfare
- Insufficient Epidemiological Data: A lack of comprehensive data on the prevalence and distribution of rare diseases hampers effective diagnosis and policy formulation. Open Journal of Rare Diseases
Affordability of Treatments
The high cost of treatments for rare diseases presents a substantial barrier:
- Expensive Therapies: Many treatments are prohibitively priced, making them inaccessible to a large segment of the population. Rare Diseases
- Limited Financial Support: Although the National Policy for Rare Diseases, 2021, provides financial assistance up to ₹50 lakh per patient for certain conditions, the coverage is not comprehensive, leaving many patients without adequate support. Ministry of Health and Family Welfare
- Taxation on Medications: Industry leaders have advocated for the exemption of taxes on drugs for rare diseases to reduce costs, but such measures have yet to be implemented. Reuters
Recent Initiatives
Efforts are underway to address these challenges:
- National Fund for Rare Diseases: In December 2024, the Delhi High Court directed the establishment of this fund with an allocation of ₹974 crore for the financial years 2024–25 and 2025–26, aiming to provide financial assistance for treatment. Rare Diseases
- Policy Revisions: Healthcare experts have called for reforms in clinical trial regulations to encourage research and development of affordable treatments for rare diseases. Reuters
While these initiatives represent progress, sustained efforts are essential to enhance early diagnosis and make treatments more affordable for rare disease patients in India.
