Targeted funding strategies and policy interventions are key to make rare disease treatments affordable
Coinciding with the recent observance of Rare Diseases Day on February 29, 2024, Anil Matai, Director General of OPPI, accentuated the need to integrate rare diseases into India's healthcare agenda, in an exclusive interview with Viveka Roychowdhury, Editor of Express Pharma. Pointing out that despite despite positive steps there are persistent challenges in the implementation, he emphasised the importance of nationwide expansion of specialised care centers and sustained financial support for rare diseases treatment and management
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