India’s fight against rare diseases

Context: Patients suffering from rare diseases who need life-long therapy have been urging the Central government to invoke the compulsory licensing clause.

Compulsory Licensing Clause

• Provision under Section 84 of the Indian Patents Act, 1970 that allows the government to grant licences to third parties to produce, use, or sell a patented invention without the consent of the patent holder. 
• Grounds for Compulsory Licensing: 
  • When the patented invention is not available to the public at a reasonable price; not being worked in India; necessary for public health.
  • When the patent holder has engaged in anti-competitive practices.

TRIPS permits member countries to issue compulsory licences for certain purposes, including public health. E.g., in 2012, India granted its first compulsory licence to Natco Pharma to produce a generic version of cancer drug (Sorafenib) which was patented by Bayer.

About Rare Diseases

• Rare Disease is a debilitating lifelong disease or disorder that affects a small number of people compared to the general population. 
• There is no universally accepted definition of rare diseases.
  • WHO defines rare disease with a prevalence of 1 or less per 1000 population.
  • India accepts that a disease prevalence of less than 100 patients per 100,000 people is categorised as a rare disease.

Rare Diseases in India

• India accounts for one-third of the global rare disease incidence, with over 450 identified diseases. Roughly about 8 crore-10 crore Indians suffer from one rare disease or another; over 75% are children. 
• Moreover, 70-80% of rare diseases are genetic in nature, and thus are asymptomatic. In India, there are between 7000 – 8000 rare diseases, but less than 5% have therapies available to treat them.

Key features of National Policy for Rare Diseases, 2021: 

• The rare diseases have been identified and categorised into 3 groups as below:
  • Group 1: can be treated by one-time curative treatment. E.g., Tyrosinemia can be treated through haematopoietic stem cell transplantation or organ transplantation. 
  • Group 2: require long-term or lifelong treatment with lower-cost interventions. E.g., Osteogenesis. 
  • Group 3: Definitive treatment exists, but is very expensive. E.g., Gaucher disease, cystic fibrosis, spinal muscular atrophy, and Duchenne muscular dystrophy.  
• National Consortium for R&D on Therapeutics for Rare Diseases is established for streamlining the research activities for rare diseases.
• Financial support of up to Rs. 50 lakhs per patient is provided for the treatment at the notified Centres of Excellence (CoEs) for Rare Diseases. As of 2024, 63 rare diseases are included under the Policy. 
• To receive financial assistance for treatment of rare disease, the patient can approach any Centre of Excellence to get registered.

Challenges: 

• Lack of proper definition: ‘Rare diseases’ are not precisely defined due to a lack of sufficient data and epidemiological assessments.
• Issues in Diagnosis and low diagnostic accuracy: For rare disease patients, it takes an average of seven years for their conditions to be diagnosed (if at all). 
• Limited facilities for treatment: Less than 50% of the 450-odd rare diseases identified in India are treatable. Treatments approved by the Drugs Controller General of India can be availed only from Centres of Excellence (CoEs). Since CoEs are few (12), unevenly distributed, and uncoordinated, it results in late diagnosis and lack of timely availability of treatment. 
• Lack of funds: The Budget’s allocation for rare diseases, although increasing over the years, remains low. Cap of ₹50 lakh on Group 3 rare diseases forces patients to abandon the treatment or rely on crowd-funding initiatives.  

Interventions related to Rare Diseases: 

• Exemption from Goods & Services Tax (GST) and Basic Customs Duty on drugs imported for Rare Diseases for individual use and through the Centre of Excellence. 
• Production Linked Incentive Scheme 2.0 for Pharmaceuticals, with an outlay of INR 15000 Crore providing financial stimulus to orphan drugs development under Category 1 of pharmaceutical goods in the Production Linked Incentive (PLI) Scheme. 
• Central Drugs Standard Control Organisation (CDSCO) has made provisions for fast-track processing of applications for rare diseases drugs for drug trials and experimental therapies. 
• Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN), a non-profit clinical genomics research network, has established a network of clinicians and scientists for the largest clinical genomics research networks in India. 
• Council of Scientific & Industrial Research has established an Indian Genetic Disease Database to keep track of mutations in the genes responsible for genetic diseases in India.

Way Forward

• The central government must frame a standard definition of rare diseases, increase budgetary outlays, funding for drug development and increase the number of CoEs.
• The government must incentivise domestic drug manufacturers under PLI, reduce clinical trial requirements in appropriate cases, and explore options such as repurposed drugs, bulk-import, and increase the availability of generic drugs.
• State governments must introduce social assistance programmes and develop satellite centres under the CoEs.