In spite of the National Policy for the Treatment of Rare Diseases (2017), rare diseases have not become part of the mainstream national health agenda in India. What are the policy changes required to make this happen?
Rare diseases, though affecting a small number of individuals, carry significant consequences, often overlooked in the broader healthcare landscape. Despite the low prevalence, their impact on affected individuals necessitates attention and dedicated policies. The dearth of diagnostic facilities, unfamiliarity on part of the physicians concerning symptoms, and lack of awareness about genetic screening are some of the other issues related to rare diseases. Therefore, it is essential to focus on strengthening and utilising the existing public health framework for the optimal usage of healthcare resources.
On March 30, 2021, the Government announced the National Policy for Rare Diseases (NPRD) with the aim to overcome challenges in the implementation of the National Policy for the Treatment of Rare Diseases (2017) and for lowering the incidence and prevalence of rare diseases by building India’s capacity to tackle rare diseases. The policy has brought some positive changes, such as the establishment of 12 Centres of Excellence (CoE)1 across the country dedicated to the treatment of rare diseases. These CoEs, which are premier Government tertiary hospitals, are intended to provide specialised care, diagnosis, research, and treatment options to patients with rare diseases, which is a significant step forward in improving access to healthcare for this population.
While they hold promise in providing specialised care, their reach is limited compared to the vast population of India. As per the data shared by the Minister of State of the Health and Family Welfare, Dr Bharati Pravin Pawar, during the recent Parliamentary Session, Rare Disease patients, who are amenable to treatment, are enrolled with COEs are only 2420 patients as on date. Furthermore, from the Minister’s data submitted to the Parliament on February 09, 2024, it can be observed that the utilisation of the funds allocated by the Ministry to the COEs have been concerningly inadequate. 2
There is a need to expand the number of such centres and ensure equitable distribution across the country to adequately address the needs of patients with rare diseases. Furthermore, sustained financial support and resource allocation to enhance its utilisation are crucial to maintaining the quality of care and treatment options provided by these centres.
With this, one key issue is the lack of a dedicated funding mechanism to support the implementation of the policy. This has hindered the development of infrastructure, research, and treatment facilities for rare diseases. Overall, continuous efforts and sustained commitment from the government, healthcare authorities, and stakeholders are necessary to overcome these challenges and effectively tackle the burden of rare diseases in India.
Access and affordability remain huge stumbling blocks when it comes to screening, diagnosis, and treatment of rare diseases in India. What are the strategies to address these issues at a population/public health level?
As OPPI, we advocate for inclusive funding for the treatment of patients with rare diseases, regardless of the specific disease groups they fall into and to put in place a mechanism to streamline the utilisation of funds to ensure those in need are not denied access for non-utilisation of available funds. To address the challenges of access and affordability, we propose the establishment of state-level treatment centers in all states, complementing the Centres of Excellence outlined in the draft Policy. The incremental development of Centres of Excellence, beginning with five to six states with existing capacity, ensures a phased approach that aligns with the diverse healthcare landscape of India.
Diagnosis of rare diseases is recommended to be concentrated at tertiary centers, while screening and treatment, including infusions of Enzyme Replacement Therapy (ERT), can occur at secondary centers. Implementing a twice-a-year follow-up schedule at tertiary centers ensures ongoing monitoring and timely interventions. Additionally, mandatory screening of newborns is crucial for early identification, facilitating prompt interventions and mitigating the long-term impact of rare diseases on individuals and their families.
Despite this, affordability remains a pervasive issue and demands innovative strategies. Government initiatives should involve negotiating fair and cost-effective pricing with pharma companies and providing subsidies to make medications more accessible. Fostering collaboration between the public and private sectors can unlock resources and expertise, ensuring sustainable and widespread availability of diagnostics and treatments. We recommend a minimum annual budget of Rs 500 crore specifically allocated for treating already diagnosed patients in dire need of support.
To further enhance affordability, we recommend the complete waiver of taxation, including GST and of all duties applicable on import of drugs used for rare disease treatment. The exemption on the import duties is provided for rare disease drugs imported only for personal use or by Centres of Excellence. As the exemption will not be applicable to drugs that are imported by innovator companies nor by other non-COE institutes doing independent research in this area, the government should extend these exemptions to all medical institutions and importers, including private entities. This measure aims to make rare disease drugs more economically viable, broadening the spectrum of treatment options available for individuals with rare diseases.
How can the affordability gap be addressed? What are the funding strategies that have worked in similar countries? Do we have any such model in India?
Addressing the affordability gap for rare disease treatments necessitates a combination of targeted funding strategies and policy interventions. In several European countries, successful models have often involved a mix of government initiatives, private sector engagement, and international collaborations. One effective funding strategy is the establishment of public-private partnerships. Governments can collaborate with pharma companies to negotiate pricing agreements, bulk purchases, bundled options or licensing arrangements to make rare disease treatments more affordable. Such partnerships can also involve co-funding research and development efforts, incentivising companies to invest in orphan drug development.
Currently, several multinational pharma companies have proactively taken steps to address affordability through corporate initiatives. Many have established Patient Access Programs (PAPs) that often involve providing medications at reduced costs or for free to eligible patients, ensuring that financial constraints do not hinder access to essential treatments. Encouraging and expanding such initiatives within the industry can contribute significantly to making rare disease treatments more accessible.
Additionally, a collaborative co-pay model involving the Central Government, State Government, and industry could be developed to ensure innovative access strategies for rare disease treatments. This model would involve sharing the cost burden and facilitating access to treatments through partnership and collaboration. By implementing these funding strategies and policy measures, India can bridge the affordability gap and ensure access to life-saving treatments for patients with rare diseases.
What can the government and industry do to make treatment for rare diseases more affordable?
To make the treatment for rare diseases more affordable, a key strategy involves fostering public-private partnerships (PPPs) to bolster provider capacity and raise public awareness. Through collaboration, both sectors can significantly reduce treatment costs via subsidies and shared resources within the PPP framework.
Since rare disease patients struggle through everyday lives, we as experts need to develop a robust supportive system that can help them deal with individual problems. Furthermore, it is imperative to include rare diseases in the medical curriculum so that healthcare professionals can identify the symptoms and timely action can be taken. Additionally, genetic testing in patients’ needs to be a requisite, specifically in high-risk cases where there has been a family history of any rare disorder.
The state of Kerala illustrates how regional efforts can be instrumental in addressing the challenges associated with rare diseases. Kerala Against Rare Diseases (KARE), an initiative by the Kerala Government, focuses on prevention, early detection, and holistic care for rare diseases, providing cutting-edge technology, home-based care, and psychosocial support. Industry participation is vital, offering essential equipment and personnel, while incentivising research and development for innovative treatments. Continuous financial support mechanisms and incentivising corporate contributions through CSR policies are essential to ensure access to treatments.
In this context, OPPI member companies are also poised to collaborate with the government. They are committed to raising awareness, enhancing knowledge, and reducing the incidence of rare diseases through targeted initiatives across the country. Moreover, they aim to streamline patient access to treatment by collaborating on referral pathways and addressing patients who meet inclusion criteria established by technical committees. Through collaborative efforts, leveraging resources, and expertise, both government and industry can effectively address the challenges associated with rare diseases.
1 AIIMS Bhopal was added as the 12th COE on November 06, 2023 – AIIMS Bhopal.pdf