Explained: What is the Centre’s recent policy for treatment of rare diseases?

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In India, roughly 450 rare diseases have been recorded from tertiary hospitals.

The Union Ministry of Health and Family Welfare Monday published a national policy for the treatment of 450 'rare diseases'. Among other measures, the policy intends to kickstart a registry of rare diseases, which will be maintained by the Indian Council of Medical Research (ICMR).

The Centre first prepared such a policy in 2017 and appointed a committee in 2018 to review it. The revised policy says assistance of Rs 15 lakh may be provided for the treatment of some such diseases.

What are rare diseases?

Broadly, a 'rare disease' is defined as a health condition of low prevalence that affects a small number of people when compared with other prevalent diseases in the general population. While there is no universally accepted definition of rare diseases, countries typically arrive at their own descriptions, taking into consideration disease prevalence, its severity and the existence of alternative therapeutic options.

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In the US, for instance, a rare disease is defined as a condition that affects fewer than 200,000 people. The same definition is used by the National Organisation for Rare Disorders (NORD). The US National Institutes of Health (NIH) has listed 7,000 rare diseases. While a majority of rare diseases are believed to be genetic, many — such as some rare cancers and some autoimmune diseases — are not inherited, as per the NIH.

India does not have a definition of rare diseases because there is a lack of epidemiological data on their incidence and prevalence. According to the policy, rare diseases include genetic diseases, rare cancers, infectious tropical diseases, and degenerative diseases. As per the policy, out of all rare diseases in the world, less than five per cent have therapies available to treat them.

In India, roughly 450 rare diseases have been recorded from tertiary hospitals, of which the most common are Haemophilia, Thalassemia, Sickle-cell anemia, auto-immune diseases, Gaucher’s disease, and cystic fibrosis.

The need for such a policy

The policy was created on the direction of the Delhi High Court to the Ministry of Health and Family Welfare. This was in response to writ petitions for free treatment of such diseases, due to their “prohibitively” high cost of treatment. Hence, a policy was deemed necessary to devise a “multipronged” and “multisectoral” approach to build India’s capacity for tackling such ailments, including by gathering epidemiological data, arriving at a definition and estimating the cost of such diseases.

Rare diseases pose a significant challenge to health care systems because of the difficulty in collecting epidemiological data, which in turn impedes the process of arriving at a disease burden, calculating cost estimations and making correct and timely diagnoses, among other problems.

Many cases of rare diseases may be serious, chronic and life-threatening. In some cases, the affected individuals, mostly children, may also suffer from some form of a handicap. As per the 2017 report, over 50 per cent of new cases are reported in children and these diseases are responsible for 35 per cent of deaths in those below the age of one, 10 per cent of deaths between the ages of one and five, and 12 per cent between five and 15.

How does it work?

While the policy has not yet put down a detailed roadmap of how rare diseases will be treated, it has mentioned some measures, which include creating a patient registry for rare diseases, arriving at a definition for rare diseases that is suited to India, taking legal and other measures to control the prices of their drugs and developing standardised protocols for diagnosis and management of the treatment.

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Under the policy, there are three categories of rare diseases — requiring one-time curative treatment, diseases that require long-term treatment but where the cost is low, and those needing long-term treatments with high cost.

Some of the diseases in the first category include osteopetrosis and immune deficiency disorders, among others.

As per the policy, the assistance of Rs 15 lakh will be provided to patients suffering from rare diseases that require a one-time curative treatment under the Rashtriya Arogya Nidhi scheme. The treatment will be limited to the beneficiaries of Pradhan Mantri Jan Arogya Yojana.