Context: The Union Ministry of Health and Family Welfare has published a national policy for the treatment of 450 ‘rare diseases’.

The Centre first prepared such a policy in 2017 and appointed a committee in 2018 to review it.

 Overview of the policy:

• 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).
• According to the policy, rare diseases include genetic diseases, rare cancers, infectious tropical diseases, and degenerative diseases.
• 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.

Background:

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.

What is a rare disease?

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.

• Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear.

Characteristics:

• Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
• The most common rare diseases recorded in India are 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.

Definition:

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.

In the US, for instance, a rare disease is defined as a condition that affects fewer than 200,000 people.