Rare Disease (RD) is defined by the World Health Organisation (WHO) as an often debilitating, lifelong disease or disorder with a prevalence of 1 or less per 1,000 population. However, there is no universal definition as different countries define rare diseases differently, with India recording about 450 rare diseases that affect at least 70 million people, if not more. Globally as well as in India, rare or orphan diseases as they are also known, pose a significant threat not just to the public health system but also to the country’s economic burden. Not to mention the catastrophic impact on families in terms of emotional as well as financial drain, as the cost of treatment is prohibitively high.

Challenges on the National Policy Front

In response, the Union Health Ministry introduced a National Policy for Rare Diseases (NPRD) in 2017 to build India’s capacity to tackle rare diseases comprehensively. The policy, updated more recently in 2021, proposed one-time financial help of Rs. 50 lakhs towards the treatment of patients suffering from rare disorders mentioned in the policy, irrespective of their economic background. The diseases mentioned in the policy are proposed to be updated continually. Additionally, the central government has set up 11 Centres of Excellence (CoE) across the country to treat those diagnosed with rare diseases such as Gaucher, inborn Errors of metabolism, Prader Willi Syndrome, Primary Immune Deficiency, and to provide one-time curative treatment like Bone marrow Transplantations, Liver Transplantation for amenable rare diseases.

Despite the policy being in place, there was a delay in releasing funds because of implementation challenges that have plagued the policy since its inception. Recently govt released 22.2 cr for 134 patients out of 453 listed from different CoEs. Several obstacles in the implementation of the policy are the cost-effectiveness of interventions for rare disease vis a-vis other health priorities, the sharing of expenditure between central and state governments, and the flexibility of state governments to accept the policy or change it according to their situation. Some CoEs have even admitted that they are hesitant to commit to providing lifelong treatment lest the treatment stops due to unforeseen circumstances and further legal complications that might arise with the patients.

The consequences of such a half-hearted policy and implementation can be devastating for families who urgently require medical aid, even resulting in the death of their loved ones when not given timely treatment. Several families have already lost their loved ones to rare diseases while waiting for treatment.

How can we solve this problem?

Before India loses any more patients to rare diseases that can be cured with timely treatment, the obstacles blocking the policy implementation need to be urgently addressed. The treatments that are available for rare diseases are lifesaving and extremely beneficial as they improve the patient’s quality of life and can potentially decrease their utilizing healthcare systems again and again. This becomes apparent when one looks at frequent hospitalizations of several rare disease patients for complications arising out of their rare diseases. Many CoEs do not yet have the infrastructure and skilled staff to provide genetic diagnostics, counselling, and advanced therapies. There is an urgent need to build a more comprehensive care provider/referral network by nudging for CoE-CoE collaboration, CoE-PPP collaboration and CoE and other regional institutes of national importance. This becomes very clear when all CoE has mandates to provide one-time treatments such as bone marrow transplants, but very few have the infrastructure or skilled staff to deliver on these mandates.

From a pharma industry perspective, it is the need of the hour to join forces with the government and solve for making treatments accessible to patients in need. This is where the implementation of the National Policy would be highly lucrative. Policies can be directed to further incentivize the pharma industry to manufacture Orphan drugs APIs and newer policies that promote formulation too in India. This dual strategy can not only address the requirement for orphan drugs for India but also can help address the cost issue of orphan drugs for the world. There is also an urgent need both from industry and government to rapidly build infrastructure, skilled manpower that can do indigenous R&D, and contract manufacturing of cell and gene therapy products. This can be achieved by strategic partnering with institutions in UK, USA, and in Europe. Providing this next-gen GMP / GLP infrastructure for R&D at the Startup level can help create breakthrough products that pharma in India can take up for further value addition.

Health being a state subject, all the State governments must work cohesively with the Central government, prioritizing patients. This would necessitate creating a digital healthcare infrastructure to document patient diagnostic and treatment journeys. Together, they can document the data of patients with rare diseases and create a much-needed comprehensive national registry to collect epidemiological data such as demography, phenotype, natural history, evolution, and outcomes of specific diseases with or without treatment, etc. The pharma industry can also contribute by spreading awareness about the importance of correct diagnosis and proper intervention. The Indian Council of Medical Research (ICMR) has sought proposals from interested scientists towards working on research and development for rare diseases and this should be continued on parallel grounds with the national policy implementation.

For the government to succeed in its endeavours, however, it must encourage and empower the patients themselves by supporting the entire community of patients and caregivers. Patient groups play a critical role in raising awareness, supporting national policies, driving a need for research programs, and contributing to the collection of data for the national registry. Non-government associations and organisations rely on government intervention to ensure that children born with the disorder get access to the care and treatment they deserve. These groups, bodies and associations of patients and caregivers can help to bridge the gap between government and patient, hastening the treatment process to save more lives.

Looking forward, the road ahead is long but extremely critical for the patients and their families suffering from the burden of the diseases. In addition, rare diseases can provide an interesting and much needed opportunity for the government to infuse a fresh breath of economic and technical innovation into the pharmacy of the world, that is India. Last, but not least, it is extremely crucial that the Union Government pays heed to the patients who were promised financial aid and facilitates the process to implement the National Policy. Innocent lives can be saved with this policy implementation at the earliest.

Link for original article : https://timesofindia.indiatimes.com/blogs/voices/rare-disease-policy-need-of-the-hour/