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

Anjali Taneja, Associate Director, Science Policy Initiative; Alok Bhattacharya, Professor and Head of the Biology Department and Sudha Bhattacharya, INSA Senior Scientist from Ashoka University talks about the need of the hour for rare disease treatment policy in India

Every year the last day of February is commemorated as International Rare Diseases Day. The declaration of Global Rare Disease Day in 2008 served to galvanise, coordinate and reinforce global efforts towards raising awareness about issues faced by rare disease patients, and to bring all stakeholders together. There is a continued effort towards implementing policies that are required to change the lives of over 300 million patients of rare diseases, their families, and caregivers. In India, nearly 70 million are estimated to be living with RDs; which is possibly an underreported figure. Actual numbers might be higher, which could be ascertained once there is a deeper understanding of the epidemiology of these diseases and a comprehensive database is generated that can help in developing suitable policies for disease management. The National Policy for Treatment of Rare Diseases introduced in 2017, was revised on the suggestions of the law courts, state governments and patient advocacy groups.  A new policy was formulated by January 2020 and was released by the Government of India on March 31, 2021. While the revised policy has some positive and welcome changes, it should be made more comprehensive. More importantly, the Government should aim for its early implementation, which will help gauge some of the major challenges associated with treatments’ accessibility, affordability, and acceptability in India.

Underlining challenges

An accurate and rapid diagnosis, particularly for those who live in semi-urban and rural areas, remains an important challenge. Sometimes patients have to spend years going from one clinic to another, to finally get the correct diagnosis. Major challenges are the lack of adequate availability of clinicians with appropriate knowledge about RDs and facilities for carrying out diagnostic tests. DNA sequencing, a method to find mutations in the genes, is the gold standard and a confirmative test. However, DNA diagnostic facilities are largely available in urban centres; at a high cost. After diagnosis, another major challenge for patients is the lack of availability of drugs that can either cure or slow the progression of the disease. Nearly 95 per cent of RDs might also be lacking the availability of some or the other form of therapy. This is largely because of insufficient research and development in this field as well as the lack of trained and qualified doctors and clinicians.

Rapid developments in new and emerging areas like gene delivery, gene editing, and regenerative medicine have begun to deliver promising treatment for RDs. Most of the available treatments are however unaffordable to Indian patients due to their exorbitant costs, and the reliance on imported medication in the absence of domestic manufacturing. The lack of adequate insurance schemes or necessary financial support from the government also acts as a barrier to access to treatments by patients of RDs. The 2017 policy on rare diseases earmarked funding to the tune of Rs 100 crore for the treatment of rare diseases. That was a welcome recommendation as the amount was expected to be used in the treatment of RD patients for whom therapies are available. In the new policy, that funding provision is no longer available and should be reintroduced. The national policy categorises RDs into three groups according to the treatment duration and cost; (one-time treatment, moderate cost, group 1; low-cost but life-long treatment with good outcome, group 2; and very high cost, group 3). For the first and second groups, treatment expenses up to a certain percentage are expected to be covered through the national schemes and state budgets; that might be insufficient in certain cases as some of the medications are needed life-long, and are beyond the affordability of economically vulnerable sections.

The cost of treating patients in the third category that involves expensive and long-term or lifelong treatments is proposed to be covered through a national digital crowdfunding portal. Crowdfunding as an option to raise money was being availed by the families of rare diseases in desperate times even before the introduction of the policy. Therefore, crowdfunding might not be a viable option for patients depending on a continuous supply of expensive treatments for their existence.

Finally, social acceptance, educational and job opportunities and accessibility to places, facilities for people living with disabilities due to rare diseases are also major concerns. Societal perception, remarks and judgements often create artificial barriers leading to psychological stress, despondency, emotional distress and disillusionment among the patients. This is not a sign of a progressive society.

Way forward

There is an urgent need to reform the national policy guidelines on rare diseases and focus on making the policy inclusive and comprehensive, catering to the needs of patients from all sections of Indian society. The National Rare Disease Policy completely leaves out the 95 per cent of RDs for which treatments have not yet emerged. This should be rectified. Moreover, the classification of patients with rare diseases in different groups could be done away with and attention could be laid on introducing a more uniform funding mechanism. The new policy could adopt a more forward-looking approach. It could consider putting aside adequate resources for providing currently available imported drugs to patients, while simultaneously taking steps to make the country self-reliant in discovering, designing and manufacturing drugs for RDs that would benefit the largest number of patients through in-house production at a fraction of existing prices.

The policy could lay the framework for a sustainable mechanism of availability and accessibility of drugs for our patients through local R&D, investment in technology-driven solutions, and enabling domestic manufacturing for the production of medical devices and drugs for rare diseases. Changes in regulatory rules, tax relaxation, financial incentives to domestic pharma companies and building awareness among them – especially for the small and medium enterprises – will give them a big boost to enter this market. ‘Vocal for local’ is the new mantra. Encouraging domestic development and production of medication not only for local use but also for exports will eventually be revenue-generating for the manufacturers and could also be a source of active contribution towards the nation’s national gross domestic product.

Appropriate regulatory changes or legislative moves to enable reduced costs of treatments of some of the life-threatening rare diseases could be beneficial in the long run. Rapid approval process and emergency authorization were found to be highly effective for COVID-19 vaccines; such approaches could be considered for RDs as well. Compassionate use policy has been implemented in many countries and could also be explored in India. Last year, the UK came out with guidelines on licensing biosimilar products, doing away with comparative efficacy trials in most cases for the development of biosimilars. This implies that without a clinical trial requirement, the cost of regulatory approval for a biosimilar product will reduce significantly and in turn reduce the prices of bio-therapeutics and related treatments.  India could also consider easing the clinical trial requirements of such medicines.

Finally, there is a need to enable friendly alliances and collaborations with patient groups, NGOs to spread awareness about rare diseases, encourage a progressive mindset and positive thinking within the society. People living with rare diseases have an equal right to live and grow in a normal environment without any discrimination or unnecessary judgements.