News Excerpt
The Madras High Court has recently expressed dismay over the delay on the part of the Centre in finalising the National Policy on Treatment of Rare Diseases and the reluctance of the State government to allocate funds for treatment of rare diseases on the perception that treatment could only prolong longevity of patients and not cure them permanently.

•    WHO defines rare disease as often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 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.
•    Rare diseases are also called ‘orphan diseases’ and drugs to treat them are called ‘orphan drugs’.
•    According to the government, so far only about 450 diseases have been recorded in India from tertiary care hospitals that are globally considered as rare diseases. The most commonly reported diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.

    Lack of epidemiological data- Data on how many people suffer from different rare diseases in India is lacking. The cases identified so far have been diagnosed at tertiary hospitals.
    Diagnosis of rare diseases- Diagnosis of a rare condition may take upto several years, owing to difficulty in diagnostic modalities and lack of awareness among doctors. For many rare diseases, no diagnostic method exists, or diagnostic facilities are unavailable.
    Challenges in research and development- A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases. Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience.
    Prohibitive cost of treatment- As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to develop and bring to market drugs for them. For this reason, rare diseases are also called ‘orphan diseases’ and drugs to treat them are called “orphan drugs”. Where, they do make drugs to treat rare diseases, they sell them at extremely high costs, to recoup the cost of research and development.

    The health ministry had formulated a national policy on treatment of rare diseases in 2017, which envisaged the setting up of a corpus fund with an initial amount of ₹100 crore towards funding treatment of rare genetic diseases, but this never picked up due to budget constraints. Thus, recently it was suspended due to implementation issues and to widen scope and treatment options.
    The scope of the draft policy proposes to limit financial support to patients suffering from only a few rare diseases, categorised under Group 1, like osteopetrosis and certain immune deficiency disorders that can be cured with treatment, and certain diseases Tyrosinemia, Fabry’s disease and Maple Syrup Urine Disease, which require kidney or liver transplants. This is a cause of concern.
    Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases. Despite progress in recent years, effective or safe treatment is not available for most of the rare diseases.

Government Initiatives
In its draft rare diseases policy 2020, the government has proposed a financial support of up to Rs 15 lakh under the umbrella scheme RashtriyaArogaya Nidhi for those that require a one-time treatment, provided the patient was eligible under its flagship health insurance scheme, Ayushman Bharat’s Pradhan Mantri Jan Arogya Yojana.

Way Forward
    Government must take measures to improve research and development for treatment, diagnostic modalities, care and support including assistive devices, drug development for rare diseases etc.
    Create a corpus fund at Central and State Level for part funding treatment of rare diseases on the basis of technical criteria developed by the Technical cum Administrative Committee.
    Take legal and other measures to control the prices of drugs for rare diseases to ensure its affordability and health system sustainability.
    Encourage funding support from Public Sector Undertakings (PSUs) and corporate sector and exploring other options for sustainable funding for the corpus.
    In the US, the Orphan Drugs Act provides incentives to drug manufacturers to encourage them to manufacture drugs for rare diseases, and similar incentives are also provided in the UK and certain other developed countries. India must also follow this initiative.
Thus a robust policy is necessary to devise a multipronged and multi-sectoral approach to build India’s capacity to tackle rare diseases comprehensively.

FDA, RashtriyaArogaya Nidhi, Ayushman bharat scheme