Prasanna Shirol, Executive Director of the Organization for Rare Diseases India (ORDI), expresses his opinion to the Times of India about the urgency to address the issue of rare diseases.

Prasanna explains that there is no universal definition of a ‘rare disease’ because definitions vary in every country. In India, 450 rare diseases are recorded, affecting approximately 70 million people.

However, due to the fact that 80% of rare diseases fall within the genetic category, 70% of rare diseases begin in childhood. Further, 50% of all new cases discovered in children result in 35% of deaths occurring before the babies are one year old.

Based upon the severe impact on children, Mr. Sikri urges the government to reconsider its approach to rare diseases in India.

The World Health Organization

The WHO defines a rare disease as affecting one person or less in one thousand people. A rare disease is often debilitating and a lifelong disease.

Globally, rare diseases, commonly known as orphan diseases, have become a threat to the public’s health systems as well as to a country’s economy.

On an individual basis, the impact on a family and patient is catastrophic, both financially and emotionally. The cost attributed to treatment is unimaginable for most families.

A National Policy

The Union Health Ministry responded by introducing a National Policy in 2017, which was updated in 2021.

The policy was designed to improve India’s ability to deal with rare diseases effectively. Financial assistance will be available to help patients who have been diagnosed with such diseases without regard to their economic status. The list of disorders is to be continually updated.

The Central Government has made arrangements for 11 Centers of Excellence to be created in various parts of the country to treat Prader-Willi Syndrome, Gaucher disease, inborn errors of metabolism, and primary immune deficiency. Curative procedures such as liver transplantation and bone marrow transplant are also listed.

The Policy is in Place… the Funds Are Not

Although the Policy is in place, there have been continuous challenges to implementation.

Funds have recently been directed to 134 patients from a total of 453 patients who were scheduled to receive assistance. Several obstacles limiting the Government’s ability to release funds are:

• The feasibility of treatment required for a rare disease compared to other health issues
• Cost sharing among state and central governments
• The degree of flexibility that state governments have to either adopt or amend the policy depending on their specific needs

Centers of Excellence have acknowledged that they question the viability of committing to lifelong treatment as the treatment may stop as a result of unforeseen factors. This may incur legal issues between the Centers and patients.

Several families report the loss of loved ones due to treatment that was delayed.

Can the Problem Be Solved?

The answer is “yes” as long as factors that are blocking the implementation of the policy are addressed.

One of the most obvious problems is that many Centers of Excellence are not yet set up with the skilled staff and infrastructure that provides genetic diagnostics, advanced therapies, and counseling.

A referral network is needed to encourage Centers of Excellence to collaborate with prominent regional institutes. The Centers are mandated to provide bone marrow transplants and equivalent procedures, yet they do not have the skilled staff or even the infrastructure to carry out those functions.

The Pharma Industry

In Prasanna’s opinion, the pharma industry should join the government in facilitating treatments for patients who are desperately in need. He believes that a National Policy could be an incentive for the pharma industry to develop Orphan drugs and policies that advance the formulation of those drugs in India.

This ‘dual strategy’ would establish a requirement for orphan drugs in India as well as address the world’s cost issue for orphan drugs.

The doctor touched on the subject of the government and industry’s need to establish skilled manpower for research and development within India. The answer, he believes, would be to partner with facilities in the USA, UK, and Europe to establish breakthrough products.

Health is a state issue and therefore state and central governments must work together to create a digital healthcare database to document patients’ diagnoses and treatment. Working together enables the governments to document data on rare disease patients, plus create a national registry.

It is noteworthy that the Indian Council of Medical Research has requested proposals regarding research and development for rare diseases.

The Value of Patients Groups

Successful governments in this regard empower patients through the government’s support of the whole community. These governments recognize the patient groups’ role in supporting:

• National policies
• Research programs
• Raising awareness
• Contributing to the collection of data for the National Registry

Organizations that are non-governmental rely on the government to intervene on behalf of children born with rare diseases to ensure that these children have access to proper treatment and care. These associations, consisting of patients and caregivers, help to expedite treatment and save lives.