India’s very large population means that diseases that affect a relatively small proportion of its citizens will still be affecting very large absolute number of patients. Rare diseases, as the name suggests, are health conditions of low prevalence that affects a small number of people compared with other prevalent diseases like tuberculosis or malaria in the general population. As the recently released draft National Policy for Rare Diseases shows, it is estimated that globally around 6,000 to 8,000 rare diseases exist with new rare diseases being reported in the medical literature regularly. However, approximately 350 diseases affect 80 per cent of all patients of rare diseases.

Lack of definitional harmonisation adds another layer of challenge in health policymaking around rare diseases. While WHO defines rare diseases as often debilitating lifelong disease or disorder condition with a prevalence of 1 or less per 1,000 population, the US defines rare diseases as a disease or condition that affects fewer than 200,000 patients in the country. The EU defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04 per cent) in the country. An Indian definition seems absent as of now, explained mostly by the lack of reliable estimates of the number of patients.

A situation where only less than 5 per cent of these diseases have therapies available to treat them provides the context for the National Policy for Rare Diseases, 2020, a draft of which was shared for inputs from the public earlier this month by the Ministry of Health and Family Welfare. The drafting of the policy followed an order by the Delhi High Court on the same in 2016. Rare diseases are also called ‘orphan diseases’ as the relatively small number of patients acts as an impediment for drug and treatment development; and when these are available, they remain prohibitively expensive.

The draft policy aims to overcome the lack of information on rare diseases in India by initiating a National Registry for Rare Diseases anchored by the Indian Council of Medical Research, involving centres across the country diagnosing and managing such diseases. Given that there is no Indian definition of rare diseases, the draft policy goes on to propose a tentative definition consisting of the following three categories of patients…

Group 1: Disorders amenable to one-time curative treatment,

Group 2: Diseases requiring long-term / lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required, and,

Group 3: Diseases for which definitive treatment is available, but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.

The draft policy opts for a realistic approach rather than an ambitious one. Unfortunately, it also embraces a minimalist approach, justifying it by stating that health care is a state subject. The central government’s role is thus limited to encouraging and supporting the states in their endeavour towards screening and prevention of rare diseases; as well as in enabling access to affordable health care to patients of rare diseases that are amenable to one-time treatment - the first category.

In yet another distinct step towards making BPL (below poverty line) a redundant category in social service delivery, the draft policy offers Rs 15 lakh under the umbrella scheme of Rashtriya Arogya Nidhi to all eligible patients from the 10.7 crore households under the Pradhan Mantri Jan Arogya Yojana. However, the treatment is to be from government tertiary hospitals alone. Irrespective of this, given the very high cost of treatment available for rare diseases, this will be a much-needed support for such families.

As a stopgap measure given the resource constraints, the draft policy suggests the creation of an alternative funding mechanism through setting up a digital platform for voluntary individual and corporate donors to contribute to the treatment cost of patients of rare diseases. However, a national policy document depending on charity payments for an important health care priority of the nation sends wrong signals to the patients, and to the world at large.

It is said within the draft policy that the annual cost of treatment for some rare diseases may vary from Rs 10 lakh to more than Rs 1 crore per year with treatment being lifelong and drug dose and cost increasing with age. However, the money that was to be allocated for implementing the policy - if the amount mentioned in an earlier version of the draft is any indication - is a paltry Rs 100 crore. The new draft policy does not mention anything about the National Corpus Fund, but one hopes that Budget 2020 offers substantial resources to implement the policy in the broadest possible manner, which is an equity imperative.

Innovative ways of integrating this policy to the government’s ambitious Ayushman Bharat are surprisingly absent in the draft policy. The focus on prevention and screening is indeed laudable, but India is soon to be the country with the largest population in the world, overtaking China. With estimates suggesting that around 73 million Indians suffer from one or the other rare disease, India has to show a strong initiative towards the development of ‘orphan drugs’ - drugs for rare diseases - for the Indian as well as global population.

India has a range of policy options across the ideological spectrum to choose from - from open source drug discovery by the public sector to intellectual property rights related measures like patent protection and market exclusivity to trigger research. Be it through active government intervention or nudging and incentivising the private sector or through a judicious mix of both approaches, the time has come for India to work towards becoming the orphan drug pharmacy of the world.

Regrettably, the draft policy lacks ambition or aspiration: it does not cover much ground and is bogged down by “lack of resources” as the overarching theme instead of providing a much-needed roadmap.

Oommen C. Kurian is Senior Research Fellow and Head of the Health Initiative at the Observer Research Foundation, New Delhi. The views expressed here are personal.

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