Rare diseases are rare in their occurrence and affect a small population in the community. These uncommon, usually serious, incapacitating, chronic, and lethal diseases are categorized as rare and/ or orphan diseases. Only a small portion of the population is afflicted with such rare diseases. There is no universal agreement on the threshold at which a disease is deemed rare and it is defined based on its prevalence with respect to the community population. When a disease affects 1 in 5,000 people or less, it is classified as a rare disease in the Indian context. Rare diseases are also called orphan diseases since due to their small size, pharmaceutical companies are not interested in developing medicines that require huge amounts of time and investment. However, government interest in supporting the necessary infrastructure for rare diseases in India is making some headway for the patients with rare diseases.
To assist patients with rare diseases, the government of India introduced the National Policy for Rare Diseases (NPRD) 2021 in March 2021. Achondroplasia, Acromegaly, Cushing’s Syndrome, DMD, DMS, Nephropathic Cystinosis, Porphyria, MPS IV, Hyperphenylalaninemia, etc. are a few examples of rare diseases reported in India. The following are the key components of NPRD 2021:
The detected rare disorders have been divided into three groups:
Group 1, Group 2, and Group 3.
- Group 1: Disorders that can be cured with a single treatment.
- Group 2: Diseases that have been proven in the literature to require lifelong or long-term treatment and have a comparatively lower cost of care and benefit require yearly or additional recurrent monitoring.
- Group 3: Conditions for which a permanent cure is accessible, but choosing the right patient is difficult due to factors including lifelong treatment and a high price.
In recent years, the Indian government has made an effort to examine the country’s situation with regard to rare diseases in greater detail. The National Health Policy 2017 made a start when it included managing rare and orphan diseases in the framework of filling in specific service shortages through a public-private collaboration. A National Policy for Treatment of Rare Diseases (NPTRD) was created in July 2017 and was subsequently reviewed by an Expert Committee in 2018 for a variety of factors, including difficulties with execution. A thorough National Policy for Rare Diseases 2021 was approved by the Ministry of Health and Family Welfare in March 2022. Additionally, the ICMR launched a hospital-based “National Registry for Rare Diseases” in 2017 with the assistance of institutions around the nation that are engaged in the diagnosis and treatment of rare diseases. According to the Ministry of Health and Family Welfare, patients with any sort of rare diseases who wish to receive treatment outside the scope of Rashtriya Arogaya Nidhi’s umbrella programme may be eligible for financial assistance of up to Rs. 50 lakhs. The patient from the neighbourhood can go to the closest Centre of Excellence to get evaluated and take advantage of the benefits in order to receive financial support for the treatment of rare diseases. For the purpose of identifying, preventing, and treating rare diseases, eight Centres of Excellence (CoEs) have been identified. There are now five Nidan Kendras offering genetic counselling and testing.
In conclusion, the National Policy for Rare Diseases 2021 has been a positive starting step, but the government has to strengthen it even more by providing pertinent policy support and increased funding.
