RARE DISEASE IN INDIA AND NATIONAL POLICY FOR TREATMENT OF RARE DISEASES 2021

 

RARE DISEASE

‘Rare Disease’ is broadly 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, but there is no universal definition. Many cases of rare diseases may be serious, chronic and life-threatening. 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, haemophilia etc.

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

• Three elements to the definition as used in various countries are:
• The total number of people having the disease
• Its prevalence
• Non-availability of treatment for the disorder

A formal definition helps a nation to identify such diseases that require financial support for the discovery and development of drugs. This in turn helps in encouraging the product development improving the funding for basic and clinical research on rare diseases.

The World Health Organisation (W.H.O.) has suggested that a rare disease should be defined as one with frequency less than 6.5 – 10 per 10,000 people. In USA, it is defined as any disease or condition that affects less than 200,000 persons. In China, rare disorder is defined as one that affects less than 1/500,000 people or one that has a neonatal morbidity of less than 1/10,000.

Stated as the prevalence per 10,000, the number used in USA is 7.5, in Europe it is 5, in Japan it is 4, in South Korea it is 4, Australia it is 1.1 and Taiwan it is 1.0. Thus, a country defines a rare disease most appropriate in the context of its own population, health care system and resources.

RARE DISEASE IN INDIA

India, like many developing countries, currently has no standard definition. Considering the large population of India, ORDI (Organisation of Rare Diseases India) suggests a disease to be defined as rare if it affects 1 in 5,000 people or less.

Though rare diseases are of low prevalence and individually rare, collectively they affect a considerable proportion of the population. 80% of rare diseases are genetic in origin and hence disproportionately impact children. India has close to 50-100 million people affected by rare diseases or disorders, the new 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.

Since there is no epidemiological data, there are no figures on 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 centres across the Country that are involved in 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, Haemangiomas and
• Certain forms of muscular dystrophies.

NATIONAL POLICY FOR TREATMENT OF RARE DISEASES, 2017

The policy highlights the measures and steps, both in the short as well as in the long term, that need to be taken to deal comprehensively with rare diseases. It aims to create a patient registry for diseases housed in Indian Council of Medical Research (ICMR).

The policy intends to constitute an Inter-ministerial Consultative Committee to coordinate and steer the initiatives of different ministries and departments on rare diseases. It also mentions for the creation of a corpus fund at Central and State level for funding treatment of rare diseases. 

However, recognising the higher cost of treatment for rare diseases, the policy also seeks to strike a balance between access to treatment with health system sustainability. It also aims to create awareness among health professionals, families of patients and the public in general, about rare diseases.

NATIONAL POLICY FOR TREATMENT OF RARE DISEASES, 2021

According to the policy, rare diseases include genetic diseases, rare cancers, infectious tropical diseases, and degenerative diseases. Patients of rare diseases will soon be eligible for a one-time treatment under the 'Ayushman Bharat' 'Pradhan Mantri Jan Arogya Yojana' (AB-PMJAY).

Beneficiaries for financial assistance would not be limited to below poverty line (BPL) families, but extended to about 40% of the population, who are eligible as per 23 norms of Pradhan Mantri Jan Arogya Yojana (PMJAY), for their treatment in Government tertiary hospitals only.

A patient registry of rare diseases is to be constituted under ICMR (Indian Council of Medical Research).

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 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 require 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 ‘centres 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 criticised for acting more like a set of guidelines to understand the disease, rather than specifying actions which 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 endeavour towards screening and prevention of rare diseases. However, while screening has been emphasised 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.