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.
Why in News?
- In order to provide facilities for treatment and care of patients suffering from rare diseases, eight Centres of Excellence have been notified, which are premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases.