The Delhi High Court ordered the Centre to finalise and notify the National Health Policy for Rare Diseases by March 31

Rare diseases, as the name suggest, are those diseases which affect a small proportion of the population; but when taken in actual numbers for a big country like India, it should make one sit up and take notice. Although an estimated 70 million patients in India live with a rare disease, accessible and affordable treatment is still a long way away. Unfortunately, rarely has the government paid adequate attention to the cause.

This could change, because on March 23 the Delhi High Court ordered the Centre to finalise and notify the National Health Policy for Rare Diseases by March 31. Besides this, the court has asked for the setting up of a committee at the All India Institute of Medical Sciences for processing applications and recommending treatment, and funding means for such treatments.

The Union health ministry, in January 2020, published a national rare disease policy but it was short on a treatment roadmap; and was not all-inclusive.

India needs a concrete health care policy for rare diseases — such a policy needs to address the major challenges, such as diagnostic challenges, exorbitant treatment costs, and the lifelong care of patients. The central government must work on the rare disease policy, which is holistic, inclusive, and beneficial to all sections of the rare disease community.

Besides the fact that it takes an average of seven  years to diagnose a rare disease due to lack of awareness and diagnostics available, most treatment when available is either not accessible in India, or beyond the reach of an average patient. Most rare diseases are serious, chronic and progressive in nature. Patients and caregivers go through a very challenging time, compounded by the lack of other facilities and public access for such patients who often suffer from related physical disabilities.

Early Intervention

To start with, in India we need clarity on the definition of a ‘rare disease’. As per the Ministry of Health and Family Welfare (MoHFW)’s new drug and clinical trials rules, the definition of Orphan Drug under Rule 2(1)(x) states that an “Orphan Drug means a drug intended to treat a condition which affects not more than five lakh persons in India”. Whereas, as per the Indian Council of Medical Research (ICMR) registry definition, “A disease or disorder is defined Rare in India when it affects fewer than 1 in 2500 individuals”.

The next key imperative is to address the diagnostic odyssey by means of early interventions and diagnostic approaches such as new-born screening programmes, reasonably-priced genetic tests, robust genetic counselling centres, etc. These must be made an integral part of the healthcare system. The government should implement rare disease surveillance programmes at the earliest to guide families on the importance of carrier testing, suggesting preventive tests such as prenatal and antenatal tests.

A meagre 5 percent of rare diseases have treatment options available; even those are hard to access as the drugs are available mostly abroad, or when locally available, they are exorbitantly priced. Neither do we have government infrastructural facilities to diagnose and treat rare diseases.

No Funds

In India, the access to treatment funds for common people impacted by rare diseases is nil. The only exception being Karnataka; it is the only state where free treatment is available to everyone resident for Lysosomal Storage Disorders (LSD), and PID (Primary Immunodeficiency); the same can be availed across India only by beneficiaries of the Employee State Insurance scheme. Then we have the Rastriya Arogya Nidhi of Rs 15 lakh — a one-time assistant for one treatment/intervention for group one diseases which include liver transplantation, stem cell therapy, etc. applicable only for BPL families.

Treatment must be made available and accessible for all treatable conditions by providing easy access to all Food and Drug Administration-USA (FDA) and European Medicines Agency (EMA) approved medicines. Treatment protocols must be standardised for all identified rare diseases through evidence-based treatments and approach.

Steps Ahead

The support system for untreatable conditions by means of dietary supplements, providing specialised therapies such as physiotherapy, occupational and speech therapy, and by giving access to medical devices must be implemented. There is also a need for combining different policies and their benefits.

Finally, there must be access to international clinical trials. Publicity of clinical trials is also required to break the language barriers. Alongside, education on rare diseases, research and development is important to develop therapies for genetic conditions. An enhanced curriculum must train the medical and the scientific fraternity on rare diseases.

All hopes are set on March 31, when the government will is expected to notify the rare disease policy.