National Policy for Rare Diseases 2021

Concerns over the National Policy for Rare Diseases raised by A Rajya Sabha MP that the policy has not benefited any patient with rare diseases even after several months since its introduction.

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The MP alleged that the “unending delay and lack of urgency” on the part of the Centres of Excellence (CoE), designated as per the policy, has claimed several young lives and endangered the survival prospects of 415 patients, largely children, diagnosed with rare diseases.

She also pointed out that many CoEs were yet to seek financial support as per the policy for treating the patients.

National Policy for Rare Diseases 2021

About: It was launched by the Ministry of Health and Family Welfare in March, 2021 for the treatment of rare disease patients.

Salient features of National Policy for Rare Diseases 2021:

Objectives	To lower the cost of treatment of rare diseases. To increase focus on indigenous research and local production of medicines. Improve medical infrastructure to examine and detect rare diseases at an early stage for preventing and treating them.
Categorization	The rare diseases have been identified and categorized into 3 groups: Group 1: Disorders amenable to one-time curative treatment. Group-2: Those requiring long term/lifelong treatment having relatively lower cost of treatment. Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.
Centers of Excellence (CoEs)	The Government will notify selected Centres of Excellence, which will be premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases. CoEs will be provided with one-time financial support up to Rs 5 crore for procurement of equipment and upgradation of facilities.
Nidan Kendras	Set up by Department of Biotechnology (DBT), Nidan Kendras will be performing screening, genetic testing and counseling for rare diseases. Nidan Kendras possessing the facility for treatment may do so under the guidance and supervision of a CoE.
Financial Support	Financial support of up to Rs. 20 lakh under the umbrella scheme of Rashtriya Arogya Nidhi for rare diseases listed under Group 1. Beneficiaries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who are eligible as per norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only.
Voluntary Crowd-Funding for Treatment	Using digital platform for voluntary individual and corporate donors to contribute to the treatment cost of patients of rare diseases.
National Registry	A national hospital-based registry of rare diseases will be created to ensure adequate data and comprehensive definitions of such diseases are available for those interested in research and development.

About Rare Diseases

Definition: WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements.

Examples: Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, haemophilia etc.

Challenges with Rare Diseases:

Diagnosis: Early diagnosis of rare diseases is a challenge owing to multiple factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities.
Unavailability of treatment: There are between 7000 – 8000 rare diseases, but less than 5% have therapies available to treat them.
Prohibitive cost of treatment: As the number of persons suffering from rare diseases is small, they do not constitute a significant market for drug manufacturers. For this reason, rare diseases are also called ‘orphan diseases’.