The policy document has been uploaded on the website of Ministry of Health & Family Welfare, they added.
The field of rare diseases is very complex and heterogeneous and prevention, treatment and management of rare diseases has 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.
Despite progress in recent years, there is a need to augment effective and safe treatment for rare diseases.
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.
To address all these challenges, a very comprehensive National Policy for Rare Diseases 2021 has been finalized by the Ministry of H&FW after multiple consultations with different stakeholders and experts in the area.
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.
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.