Definition:

• Rare diseases refer to medical conditions that affect a small percentage of the population, typically fewer than 1 in 1,000 individuals. Despite their low prevalence, these disorders collectively impact millions worldwide.

Problems in treating rare diseases:

• No proper definition: The National Policy for Rare Diseases (NPRD)does not define ‘rare diseases’, a problem which the policy attributes to a lack of sufficient data.
• Delayed Diagnosis: Lack of awareness and expertise often leads to delayed diagnosis, causing prolonged suffering and uncertainty for patients.
• Limited Treatment Options: Less than 50% of the 450-odd rare diseases identified in India are treatable. Treatments approved by the Drugs Controller General of India are available for just about 20 rare diseases and can be availed only from Centres of Excellence (CoEs).
• Financial Constraints: High costs of treatment and limited insurance coverage make accessing specialised care and medications difficult for patients and their families.
• Unequal Access to Care: Disparities in healthcare infrastructure and resources result in unequal access to specialised centres and expertise across different regions of the country. 
  • CoEs are few (12), unevenly distributed, and uncoordinated, late diagnosis, inadequate therapies and lack of timely availability are the norm
• Insufficient Funding: The Budget’s allocation for rare diseases, although increasing over the years, remains low at ₹93 crore for 2023-2024, with previous years having seen reductions of up to 75% from the Budget Estimate stage to the Revised Estimates and an even worse reduction of 90% in actual expenditure. 
  • Under the NPRD guidelines, up to ₹50 lakh is allowed per patient, which will be disbursed to the concerned CoE. As chronic rare diseases usually require lifelong management and therapy, this amount is woefully inadequate. Consequently, the CoEs are wary of beginning any treatment that they may need to suspend later, leaving them vulnerable to judicial action from patients and their kin.
• Lack of Coordination: Fragmented healthcare systems and inadequate coordination among healthcare providers impede comprehensive care for rare disease patients.
• Regulatory Hurdles: Regulatory barriers, such as complex approval processes and limited availability of orphan drugs, hinder the development and accessibility of treatments for rare diseases.

Solutions to reduce rare disease burden:

• What can the Government do?
  • It is imperative for the Central government to frame a standard definition of rare disease and  increase budgetary outlays.
  • The government must incentivise domestic manufacturers under the Production-Linked Incentive Scheme, reduce clinical trial requirements in appropriate cases, and look into options such as repurposed drugs and bulk-import.
  • Drug affordability can be increased by complete waiving of GST for all life saving drugs.
• Increased Awareness and Education: Implement nationwide campaigns to raise awareness among healthcare professionals, policymakers, and the public about rare diseases, their symptoms, and available resources for diagnosis and treatment.
• Specialized Centers of Excellence: Establish more Centers of Excellence (CoEs) across the country equipped with expertise in diagnosing and treating rare diseases, ensuring equitable access to specialised care for all patients.
• Financial Support and Insurance Coverage: Expand financial assistance programs and insurance coverage to alleviate the financial burden on patients and families, making essential treatments and medications more accessible.
• Research and Drug Development: Allocate additional funding for research and drug development initiatives focused on rare diseases, incentivizing domestic manufacturers and streamlining regulatory processes to expedite the approval of orphan drugs.
• Collaboration and Coordination: Foster collaboration among healthcare providers, researchers, pharmaceutical companies, and government agencies to improve coordination and knowledge-sharing, enhancing the effectiveness of rare disease management strategies nationwide.

These steps can significantly improve the management and treatment of rare diseases in India, providing much-needed relief to millions of individuals and their families affected by these conditions.