What is a Rare Disease?

National Rare Diseases Policy 2021

WHO defines a rare disease as an often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in the context of their own population, the health care system, and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). India, like many other developing countries, currently has no standard definition of rare diseases and data on prevalence. Since there is no epidemiological data, there are no figures on the burden of rare diseases and morbidity and mortality associated with them.

To overcome this, a hospital-based National Registry for Rare Diseases has been initiated by ICMR by involving centers across the country that are involved in the diagnosis and management of Rare Diseases. This will yield much-needed epidemiological data for rare diseases. So far only about 450 rare diseases have been recorded in India from tertiary care hospitals. The most common rare diseases include Haemophilia Thalassemia Sickle-cell Anaemia 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.

Beneficiaries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who are eligible as per norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only.

A national hospital-based registry of rare diseases will be created to ensure adequate data and comprehensive definitions of such diseases are available for those interested in research and development.

There are 6,000-8,000 classified rare diseases, but less than 5% have therapies available to treat them.

Example: Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, hemophilia, etc.

About 95% of rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment.

These diseases have differing definitions in various countries and range from those that are prevalent in 1 in 10,000 of the population to 6 per 10,000.

However 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. Many cases of rare diseases may be serious, chronic, and life-threatening.

India has close to 50-100 million people affected by rare diseases or disorders, the policy report said almost 80% of these rare condition patients are children and a leading cause for most of them not reaching adulthood is due to the high morbidity and mortality rates of these life-threatening diseases.

Important features of the policy

A patient registry of rare diseases is to be constituted under ICMR (Indian Council of Medical Research). 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 include osteopetrosis and immune deficiency disorders, among others. diseases that require long-term treatment but where the cost is low, and those needing long-term treatments with high cost. 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.

For diseases listed under Group 2, State Governments can consider supporting patients of such rare diseases that can be managed with special diets or hormonal supplements, or other relatively low-cost interventions. Under the policy, certain medical institutes will be certified as Centre of Excellence for rare diseases. It includes AIIMS, New Delhi; Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow; King Edward Medical Hospital, Mumbai, and four others. There are certain diseases such as Hurler Syndrome, Gaucher’s disease, Wolman disease for which the annual treatment expenses may vary from Rs 10 lakh to Rs 1 crore. For such diseases, a digital platform is to be set up to raise donations and corporate funding. It proposes an inter-ministerial consultative committee is to be set up at the national level. The committee will be led by MoHFW. It also aims to create Administrative Committee that will develop guidelines to determine which rare diseases to fund.

Criticism of the Policy

Rare disease advocacy and support groups have called out the policy for several discrepancies including a lack of funding to support families and individuals with a rare disease. They have pointed out that the proposed allocation of financial support has been brought down to a maximum of Rs 15 lakh per case under an umbrella scheme  ‘Rashtriya Arogya Nidhi’  for those who have a rare disease that falls in Group 1, and requires one-time treatment. This is much lower than the initially proposed corpus fund of Rs 100 crore. The policy also passes the buck and says that crowdfunding can be used to provide financial support. It identifies eight hospitals across India as ‘centers of excellence and leaves it up to them to set up crowdfunding initiatives for patients that require it, or for families to themselves look at crowdfunding options for treatment.

The policy caps resources for different diseases. While treatment for one particular disease might amount to Rs 10 lakh, another disease may require Rs 1 crore to cover the cost of medications, which are only bound to increase over time. The new policy offers no support to patients awaiting treatment since the earlier National Policy for Treatment of Rare Diseases 2017 was kept in abeyance.

The new policy has absolutely no consideration for Group 3 patients, who require lifelong treatment support The policy has been criticized for acting more like a set of guidelines to understand the disease, rather than specifying actions that must be taken by the government to offer support to those affected. Public health and hospitals being a State subject, the Central Government shall encourage and support the States in their endeavor towards screening and prevention of rare diseases. However, while screening has been emphasized as a preventive measure, there is no mention of how and when screening will take place, nor has it been stated how screening will be implemented.