Explained: How diseases are categorised as ‘rare’

Largely, a rare disease is defined as a health condition of low prevalence, which affects a small number of people compared with other prevalent diseases in the general population.

On Monday, the Union Ministry of Health and Family Welfare 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. In the revised policy, an assistance of Rs 15 lakh may be provided by the central government for the treatment of some rare diseases.

What are rare diseases?

Largely, a rare disease is defined as a health condition of low prevalence, which affects a small number of people 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 definitions taking into consideration disease prevalence, its severity and the existence of alternative therapeutic options.

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.

India does not have a definition of rare diseases because there is a lack of epidemiological data on the incidence and prevalence of rare diseases. According to the policy, rare diseases include genetic diseases, rare cancers, infectious tropical diseases and degenerative diseases. While majority of rare diseases are believed to be genetic, many rare diseases such as some rare cancers and some autoimmune diseases are not inherited, as per NIH. As per the policy, out of all rare diseases in the world, less than five percent have therapies available to treat them.

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

What is 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, in turn, was a response to writ petitions filed with the HC that sought directions to the government to provide treatment for free, due to the “prohibitively” high cost of treatment for these diseases. Hence, a policy was necessary to devise a “multipronged” and “multisectoral” approach to build India’s capacity when it comes to tackling such diseases, including gathering epidemiological data, arriving at a definition and estimating the cost of such diseases.

Because of their nature, 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, cost estimations and making correct and timely diagnosis among other such problems.

Furthermore, many cases of rare diseases may be serious, chronic and life-threatening. In some cases, the affected individuals, which are mostly children, may also suffer from some form of a handicap. As per the 2017 report, over 50 percent of the new cases are reported in children and these diseases are responsible for 35 percent of the deaths in those below the age of one, 10 percent of the deaths between the ages of one and five and 12 percent of the deaths 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 drugs for rare diseases and developing standardised protocols for diagnosis and management of the treatment.

Under the policy, there are three categories of rare diseases: diseases requiring one-time curative treatment, diseases that require long term treatment but where the cost is low and long term treatments with high cost. As per the policy, 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. Some of the diseases in the first category include osteopetrosis and immune deficiency disorders among others.

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