Context: 

This editorial is based on the news “India’s fight against rare diseases” which was published in the Hindu. The last day of February every year is observed as a Rare Disease Day. According to the World Health Organization (WHO), rare diseases afflict 1 or less per 1,000 population.

What is Rare Disease?

• A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
• India accounts for one-third of the global rare disease incidence, with over 450 identified diseases.
• Example-Spinal Muscular Atrophy and Gaucher’s disease, Mucopolysaccharidosis type 1 and Whipple’s disease. 

Rare Disease in India: Current Status

• Less than 50% of the 450-odd rare diseases identified in India are treatable. 
• Treatments approved by the Drugs Controller General of India (DCGI) are available for just about 20 rare diseases and can be availed only from Centres of Excellence (CoEs). 
• Since CoEs are few (12), unevenly distributed, and uncoordinated, late diagnosis, inadequate therapies and lack of timely availability are the norm.

Need to Study Rare Disease in India

• Timely diagnosis of disease: On an average, it takes seven years for their conditions to be diagnosed (if at all). 
• Training Physicians to improve diagnosis and awareness: Physicians are generally unaware of how to interpret the signs and symptoms; 
• Prenatal screenings: Expectant mothers with a history of rare diseases in their family must undergo mandatory prenatal screening and post-natal diagnosis and care.

Challenges of Rare Disease in India

Here are some of India’s major challenges in addressing rare diseases.

• Lack of Standard Definition: 

  • India does not have an official definition of Rare Disease.

• Lack of Sufficient Data to Necessitate Policy Formulation in India: 

• • The Ministry of Health and Family Welfare formulated a national policy to treat rare diseases in 2017 but withdrew it in 2018 owing to “implementation challenges” and confusion regarding disease coverage, patient eligibility etc.

• Funding Issue: 

• • The Budget’s allocation for rare diseases remains low at ₹93 crore for 2023-2024.
    • Under the National Policy for Rare Disease (NPRD) guidelines of 2021, 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. 
    • The NPRD has urged the CoEs to crowdfund to treat rare disease patients.

• Fund Utilisation: 

• • More than ₹47 crore of the ₹71 crore financial assistance allocated to the 11 CoEs for the current year remains unused. 
    • There is no parity between CoEs in fund utilisation. 

Way Forward to Rare Disease

• Withdraw GST on life saving drugs.
• Frame a standard definition of rare diseases, increase budgetary outlays, dedicate funding for drug development and therapy.
• Increase the number of Centre of Excellence (CoEs) while also ensuring better coordination and responsible utilisation of funds. 
• State governments must introduce social assistance programmes and develop satellite centres under the CoEs. 
• Issue of exorbitant drug prices and availability must be addressed: Rare diseases cannot be left to market forces as there just aren’t enough market incentives for drug manufacturers. 
• Incentivise domestic manufacturers under the Production-Linked Incentive Scheme.