Rare Diseases
Kartavya Desk Staff
- •Syllabus: Health and Diseases*
- •Source: IE*
Context: The Delhi High Court last week issued directions aimed at improving the availability of so-called “orphan drugs”, which are medications used to treat “rare diseases” — defined by the World Health Organization (WHO) as a debilitating, lifelong condition that affects 1 or fewer people in 1,000.
Definition of rare disease:
• India does not have a standard definition for rare diseases.
• Globally, a rare disease is defined as one affecting fewer than 1 in 2,000 individuals.
• In India, there are over 450 identified rare diseases, including Spinal Muscular Atrophy (SMA) and Gaucher’s disease.
Indian status:
• Around 50-100 million Indians suffer from rare diseases, with over 75% of the cases being children.
• High morbidity and mortality rates are observed, as most patients do not survive into adulthood due to lack of treatment.
• 80% of patients do not receive necessary treatment.
Categorization of rare diseases:
• Group 1: Diseases that can be treated with a one-time curative procedure.
• Group 2: Diseases requiring lifelong treatment with lower costs.
• Group 3: Diseases with available treatments but at extremely high and lifelong costs.
Challenges:
• Unavailability of treatment: Less than 50% of rare diseases have treatments.
• Unaffordable treatment costs: Drugs for rare diseases (orphan drugs) are highly expensive.
• Low focus on R&D: Pharmaceutical companies view rare diseases as unprofitable, limiting drug development.
• Late diagnosis: Diagnosis takes an average of seven years, leading to delayed or incorrect treatments.
• Lack of trained healthcare professionals: Healthcare professionals are often untrained to diagnose or treat rare diseases.
Government initiatives:
• National Policy for Rare Diseases 2021: Provides financial assistance and sets up 12 Centres of Excellence (CoEs) for treatment.
• PLI scheme for rare drugs: Provides financial incentives for manufacturing orphan drugs.
• Customs duty waiver: Waivers on imported rare disease drugs for personal use.
• Digital portal for crowdfunding: Allows the public to donate funds for patients’ treatments.
Way ahead:
• Increase treatment access: Expand the range of treatable rare diseases and increase the number of CoEs.
• Financial assistance: Enhance financial aid, especially for long-term treatments, and reduce the burden on patients.
• R&D investments: Encourage research and development of affordable drugs for rare diseases.
• Healthcare professional training: Improve medical education and training for better diagnosis and treatment of rare diseases.
• Public awareness: Raise awareness about rare diseases to foster timely diagnosis and better understanding.
Conclusion:
India’s rare disease burden demands urgent attention, with reforms in healthcare infrastructure, treatment access, and research development. Strengthening policies, enhancing financial support, and improving medical knowledge are essential steps in providing equitable healthcare to millions of affected individuals.
Insta Links:
• Rare-disease
• Policy-on-rare-diseases
Appropriate local community-level healthcare intervention is a prerequisite to achieve ‘Health for All’ in India. Explain. (UPSC-2018)