Rare disease treatment policy in India: accessibility, affordability and acceptability are key

February 28, 2022:

Each year, the last day of February is commemorated as International Rare Disease Day. The proclamation of World Rare Disease Day in 2008 served to galvanize, coordinate and strengthen global efforts to raise awareness of the issues facing patients with rare diseases and to bring together all stakeholders. Ongoing efforts are being made to implement the policies needed to change the lives of over 300 million rare disease patients, their families and caregivers. In India, it is estimated that nearly 70 million people live with DRs; which is perhaps an underestimated figure. The actual numbers could be higher, which could be verified once there is a better understanding of the epidemiology of these diseases and a comprehensive database is generated that can help develop appropriate policies for the disease management. The National Rare Disease Treatment Policy introduced in 2017 was revised on suggestions from the courts, state governments and patient advocacy groups. A new policy was formulated in January 2020 and released by the Government of India on March 31, 2021. Although the revised policy has some positive and welcome changes, it should be made more comprehensive. Most importantly, the government should aim for its rapid implementation, which will help assess some of the major challenges associated with accessibility, affordability and acceptability of treatment in India.

Highlight challenges

Accurate and rapid diagnosis, especially for those living in semi-urban and rural areas, remains a significant challenge. Sometimes patients have to spend years going from clinic to clinic to finally get the right diagnosis. The main challenges are the lack of adequate availability of clinicians with appropriate knowledge of RDs and facilities to perform diagnostic tests. DNA sequencing, a method for finding mutations in genes, is the gold standard and a confirmatory test. However, DNA diagnostic facilities are widely available in urban centers; at a high cost. After diagnosis, another major challenge for patients is the lack of availability of drugs capable of curing or slowing the progression of the disease. Almost 95% of dietitians may also not have access to some form of therapy. This is largely due to insufficient research and development in this area as well as a lack of trained and qualified physicians and clinicians.

Rapid developments in new and emerging fields such as gene delivery, gene editing, and regenerative medicine have begun to provide promising treatment for DRs. Most of the available treatments are, however, unaffordable for Indian patients due to their exorbitant costs and reliance on imported drugs in the absence of domestic manufacture. The absence of adequate insurance schemes or the necessary financial support from the government is also a barrier to access to treatment by patients with RD. The Rare Disease Policy 2017 earmarked funding of up to Rs 100 crore for the treatment of rare diseases. This was a welcome recommendation as the amount was to be used in the treatment of RD patients for whom therapies are available. In the new policy, this funding provision is no longer available and should be reintroduced. The national policy classifies DRs into three groups according to the duration and cost of treatment; (single treatment, moderate cost, group 1; low cost but lifelong treatment with good results, group 2; and very high cost, group 3). For the first and second groups, treatment expenses up to a certain percentage should be covered by national schemes and state budgets; this might be insufficient in some cases as some of the drugs are needed for life and are not affordable for economically vulnerable sections.

It is proposed to cover the cost of treating patients in the third category which involves expensive and long-term or lifelong treatments through a national crowdfunding digital portal. Crowdfunding as an option to raise funds was used by rare disease families in desperate times even before the policy was introduced. Therefore, crowdfunding might not be a viable option for patients who depend on a continuous supply of expensive treatments for their existence.

Finally, social acceptance, educational and employment opportunities and accessibility to places and equipment for people living with a disability due to rare diseases are also major concerns. Societal perception, remarks and judgments often create artificial barriers leading to psychological stress, discouragement, emotional distress and disillusionment in patients. This is not the sign of a progressive society.

Go forward

There is an urgent need to reform the national rare disease policy guidelines and focus on an inclusive and comprehensive policy, addressing the needs of patients from all sections of Indian society. The national policy on rare diseases completely ignores the 95% of rare diseases for which treatments have not yet emerged. This should be rectified. Furthermore, the classification of patients with rare diseases into different groups could be abolished and attention could be paid to introducing a more uniform funding mechanism. The new policy could take a more forward-looking approach. It could consider setting aside adequate resources to provide patients with currently available imported drugs, while simultaneously taking steps to make the country self-sufficient in the discovery, design and manufacture of drugs for DRs that would benefit the greater number of patients thanks to in-house production at a fraction of existing prices.

The policy could establish the framework for a sustainable mechanism of availability and accessibility of medicines for our patients through local R&D, investment in technology-driven solutions and national manufacturing of medical devices and medicines. for rare diseases. Changes in regulatory rules, tax easing, financial incentives for national pharmaceutical companies and raising awareness of them – especially for small and medium-sized companies – will give them a big boost to enter this market. ‘Vocal for local’ is the new mantra. Encouraging national development and production of drugs not only for local use but also for export will ultimately generate revenue for manufacturers and could also be a source of active contribution to the national gross domestic product.

Appropriate regulatory changes or legislative measures to reduce the costs of treatments for some of the life-threatening rare diseases could be beneficial in the long term. The rapid approval process and emergency authorization have proven to be very effective for COVID-19 vaccines; such approaches could also be considered for RDs. The compassionate use policy has been implemented in many countries and could also be explored in India. Last year, the UK released licensing guidelines for biosimilars, removing comparative efficacy testing in most cases for biosimilar development. This implies that without a clinical trial requirement, the cost of regulatory approval of a biosimilar product will decrease significantly and, in turn, reduce the prices of biotherapies and related treatments. India could also consider relaxing the requirements for clinical trials of these drugs.

Finally, it is necessary to allow friendly alliances and collaborations with patient groups, NGOs to raise awareness of rare diseases, encourage a progressive mindset and positive thinking within society. People with rare diseases have an equal right to live and grow in a normal environment without any discrimination or unnecessary judgement.

ET Health