What is a 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.
• Rare diseases include genetic diseases, rare cancers, infectious tropical diseases and degenerative diseases. 
• 80% of rare diseases are genetic in origin and hence disproportionately impact children. 

Definition of a rare disease

• Rare disease is defined by the World Health Organisation (WHO) as an often debilitating, lifelong disease or disorder with a prevalence of 1 or less per 1,000 population. 
• However, there is no universal definition as different countries define rare diseases differently, with India recording about 450 rare diseases that affect at least 70 million people.

Challenges associated with rare diseases

• There are 7,000-8,000 classified rare diseases, but less than 5% have therapies available to treat them. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment. 
• Rare diseases are also difficult to research upon as the patients pool is very small and it often results in inadequate clinical experience. 
• The cost of treatment of rare diseases is prohibitively expensive. 

National Policy for Rare Diseases 2021

• To address the challenges related to treating rare diseases, the Union Health & Family Welfare Ministry approved the “National Policy for Rare Diseases” in 2021.

Highlights of the Policy

• In the policy, rare diseases have not been defined but classified into three groups.
  • Group 1 has disorders amenable to one-time curative treatment.
  • Group 2 has diseases requiring long-term or lifelong treatment with relatively lower cost of treatment and benefit has been documented in literature.
  • Group 3 has diseases for which definitive treatment is available, but challenges are to make optimal patient selection for benefit, and very high cost and lifelong therapy.

Lowering the Cost of Treatment 

• The Rare Diseases Policy aims to lower the high cost of treatment for rare diseases with increased focus on indigenous research.

National Hospital Based Registry

• The policy also envisages creation of a national hospital based registry of rare diseases so that adequate data is available for definition of rare diseases and for research and development related to rare diseases.

Screening, Prevention & Treatment

• • The Policy also focuses on early screening and prevention through primary and secondary health care infrastructure.
  • Screening will also be supported by Nidan Kendras set up by the Department of Biotechnology. 

• Nidan Kendras provide counselling, prenatal testing and diagnosis, management, and multidisciplinary care in Government Hospitals wherein the influx of patients is more.

• Policy also aims to strengthen tertiary health care facilities for prevention and treatment of rare diseases through designating 12 health facilities as Centre of Excellence (CoEs).

Crowd Funding Mechanism 

• Besides, the Policy also envisages a crowd funding mechanism in which corporates and individuals will be encouraged to extend financial support for treatment of rare diseases. 

Financial Assistance

• Financial support up to Rs 50 lakh shall be provided to the patients suffering from any category of rare diseases. 
• The financial support will be provided to the patients for the treatment in any of the Centre of Excellence mentioned in NPRD-2021.