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

• There is no universally accepted definition of rare disease. 
• These diseases have differing definitions in various countries and range from those that are prevalent in 1 in 10,000 of the population to 6 per 10,000. 
• According to the Indian Council of Medical Research (ICMR) registry definition, “A disease or disorder is defined as Rare in India when it affects fewer than 1 in 2500 individuals”.
• So far about 450 rare diseases have been recorded in India and it is estimated that about 6-8% of the country’s population is affected by a rare disease.

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. 
• The field of rare diseases is very complex and heterogeneous and prevention, treatment and management of rare diseases have multiple challenges. Early diagnosis of rare diseases is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities etc.
• There are also fundamental challenges in the research and development for the majority of rare diseases as relatively little is known about the pathophysiology or the natural history of these diseases particularly in the Indian context.
• Rare diseases are also difficult to research upon as the patients pool is very small and it often results in inadequate clinical experience. Availability and accessibility to medicines are also important to reduce morbidity and mortality associated with rare disease.
• The cost of treatment of rare diseases is prohibitively expensive. Various High Courts and the Supreme Court have also expressed concern about lack of a national policy for rare diseases.

National Policy for Rare Diseases 2021

• To address all these challenges, the Union Health & Family Welfare Ministry approved the “National Policy for Rare Diseases 2021” in 2021.

Highlights of the Policy

• In the new policy, rare diseases have not been defined but classified into three groups.
  • Group 1 has disorders amenable to one-time curative treatment, including osteopetrosis and Fanconi anaemia. 
  • Group 2 has diseases requiring long-term or lifelong treatment with relatively lower cost of treatment and benefit has been documented in literature, including galactosemia, severe food protein allergy, and homocystinuria. 
  • 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, covering diseases such as spinal muscular atrophy (SMA), Pompe disease, and Hunter syndrome.

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 with the help of a National Consortium to be set up with the Department of Health Research, Ministry of Health & Family Welfare as convenor.  
• Increased focus of research and development and local production of medicines will lower the cost of treatment for rare diseases. 

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 within the country.

Screening, Prevention & Treatment

• • The Policy also focuses on early screening and prevention through primary and secondary health care infrastructure such as Health and Wellness Centres and District Early Intervention Centres (DEICs) and through counselling for the high-risk parents. 
  • 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 8 health facilities as Centre of Excellence (CoEs) and these CoEs will also be provided one-time financial support of up to Rs 5 crores for upgradation of diagnostics facilities.     

Crowd Funding Mechanism 

• Besides, the Policy also envisages a crowd funding mechanism in which corporates and individuals will be encouraged to extend financial support through a robust IT platform for treatment of rare diseases. 
• Funds collected will be utilized by Centres of Excellence for treatment of all three categories of rare diseases as first charge and then the balance financial resources could also be used for research. 

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.

Why in News?

• One of the Rajya Sabha MPs raised concerns over the benefits of the National Policy of Rare Diseases (NPRD) not reaching patients with rare diseases even after several months since its introduction.

https://pib.gov.in/PressReleasePage.aspx?PRID=1846230