Rare diseases pose unique challenges to healthcare systems globally due to their low prevalence and often complex nature. These conditions, collectively affecting millions worldwide, present significant hurdles in diagnosis, treatment, and support for affected individuals and their families. Recognizing the need for a comprehensive approach to address these challenges, governments worldwide have been formulating national policies focused on rare diseases. In this context, the National Policy for Rare Diseases, 2021 emerges as a crucial framework designed to address the specific needs of anyone with rare diseases within a country.
Table of Contents
Rare Diseases:
Rare diseases, also called orphan diseases, are medical conditions that influence a small percentage of the population. In various jurisdictions, rare diseases are defined differently based on prevalence rates, often affecting 1 in 1,000 to 1 in 200,000 individuals. These diseases encompass multiple disorders, including genetic, autoimmune, and infectious diseases. Despite their low prevalence individually and collectively, rare diseases affect millions worldwide, making them a significant public health concern.
They are often genetic, chronic, and life-threatening and require specialized and costly treatments. According to estimates, there are about 7,000 rare diseases affecting 70 million people in India.
Rare diseases present several challenges, including delayed or misdiagnosis, limited treatment options, high treatment costs, lack of awareness among healthcare professionals, and inadequate support networks for affected individuals and their families. The rarity of these conditions often leads to a lack of research and development efforts, exacerbating the challenges encountered by those living with rare diseases.
Addressing rare diseases requires more awareness, diagnosis, and data, as well as high treatment costs, limited drug availability, and low priority in public health policies. These challenges have been recognized at the global and national levels, and various initiatives have been taken to improve the situation of rare disease patients and their families.
Importance Of National Policies:
National policies for rare diseases play a crucial role in addressing the multifaceted challenges associated with these conditions. These policies provide a structured approach to improving patients’ lives affected by rare diseases by addressing various aspects such as diagnosis, treatment, research, and support services. Some key reasons highlighting the importance of national policies for rare diseases include:
1. Coordination and Collaboration: National policies facilitate coordination & collaboration among different stakeholders, including government agencies, healthcare professionals, researchers, patient advocacy groups, and industry partners. This collaboration is essential for pooling resources, sharing knowledge, and implementing comprehensive strategies to address rare diseases effectively.
2. Access to Diagnosis and Treatment: National policies aim to improve access to timely and accurate diagnosis and affordable treatment options for individuals with rare diseases. By establishing protocols for early screening, genetic testing, and diagnostic pathways, these policies help reduce diagnostic delays and ensure timely interventions.
3. Research and Innovation: National policies encourage research and innovation in rare diseases by providing funding, incentives, and regulatory support for research initiatives. By promoting basic and translational research, these policies improve our understanding of rare diseases, develop novel therapies, and advance precision medicine approaches.
4. Patient Support and Empowerment: National policies prioritize the needs of individuals & families affected by rare diseases by promoting the establishment of support networks, patient registries, and specialized care centers. These policies also advocate for including patient perspectives in decision-making, empowering individuals with rare diseases to actively participate in their healthcare journey.
5. Public Awareness and Education: National policies are vital in raising public awareness about rare diseases, reducing stigma, and fostering empathy and understanding towards affected individuals and their families. By promoting educational campaigns, advocacy efforts, and community engagement initiatives, these policies help increase societal support for individuals living with rare diseases.
The NPRD, 2021, represents a comprehensive framework developed by the government to address the specific needs of individuals with rare diseases within the country. This policy outlines a strategic roadmap encompassing various objectives, strategies, and action plans to improve the management of rare diseases across different domains.
Overall, the National Policy for Rare Diseases, 2021, serves as a critical instrument for advancing the agenda of rare disease management, promoting equity, & improving the quality of life for individuals affected by these conditions. By comprehensively addressing the unique challenges associated with rare diseases, this policy contributes to the broader goal of achieving universal health coverage and ensuring health equity for all citizens.
Evolution Of National Policies For Rare Diseases
Here, we will explain the evolution of national policies for rare diseases in India, from the first policy formulated in 2017 to the one notified in 2021. We will also discuss the historical context, previous policy frameworks, and their limitations that led to the need for an updated policy. Finally, we will highlight the rationale behind the 2021 framework and its key features.
Historical Context
The issue of rare diseases became prominent in India after a series of public interest litigations (PILs) filed by patients and their families seeking financial assistance from the government. The Supreme Court and various High Courts directed the government to fund such cases under different schemes.
However, there was no uniform policy or mechanism to deal with rare diseases nationally. The Ministry of Health & Family Welfare (MoHFW) realized the need for a comprehensive policy that would address the various aspects of rare diseases, such as prevention, diagnosis, treatment, research, and social support.
Previous Policy Frameworks
The MoHFW formulated the first National Policy for Treatment of Rare Diseases in July 2017. The policy aimed to provide one-time financial assistance of up to Rs. 15 lakh to patients from below poverty line (BPL) families to treat rare diseases requiring a one-time curative intervention.
The policy also proposed to create a corpus fund at the central and state levels, with contributions from the government and corporate social responsibility (CSR) funds. The policy also envisaged setting up centers of excellence, creating a national registry, developing guidelines for screening and diagnosis, promoting research and development, and creating awareness among the public & health professionals.
However, the implementation of the policy faced several challenges and gaps. Some of them were:
– Lack of consensus on the definition and list of rare diseases covered under the policy
– Lack of clarity on the sharing of expenditure between the central and state governments
– Lack of flexibility for state governments to modify the policy according to their situation
– Lack of cost-effectiveness analysis of interventions for rare diseases vis-a-vis other health priorities
– Lack of availability and affordability of drugs for rare diseases
– Lack of adequate workforce and infrastructure for diagnosis and treatment
Because of these challenges, the MoHFW decided to reframe the policy and constituted an expert committee in November 2018 to review the NPTRD 2017 and suggest amendments. The committee submitted its report in October 2019, which formed the basis for drafting the new policy.
Need for an Updated Policy
The need for an updated policy was also felt due to the changing scenario of rare diseases in India and globally. Some of the factors that influenced the need for a revised policy were:
– The emergence of new technologies and therapies for diagnosis and treatment of rare diseases
– The experiences and best practices from other countries that have adopted national policies or strategies for rare diseases
– The increasing awareness and advocacy by patient groups and civil society organizations
– The alignment with the global agenda on universal health coverage (UHC) & sustainable development goals (SDGs)
Rationale Behind the 2021 Framework
The MoHFW finalized the draft National Policy for Rare Diseases 2021 (NPRD 2021) after inviting comments from stakeholders, the general public, organizations, and states/UTs. The policy was notified on March 30, 2021.
The rationale behind the NPRD 2021 is to provide a holistic and integrated approach to prevent and manage rare diseases in India. The policy aims to strike a balance between competing priorities in health care while ensuring equity, affordability, and accessibility for patients with rare diseases.
The policy also recognizes that rare diseases are medical issues and social issues that require multi-sectoral collaboration and coordination. The policy also aligns with the vision and strategy of India’s context in terms of its health system capacity, resource availability, disease burden, and socio-economic conditions.
Key Features Of The NPRD 2021 Framework
There is no clear definition of rare diseases in India, but it is estimated that 70-90 million people suffer from them. However, there is a lack of awareness, diagnosis, treatment, and research on rare diseases in the country. The Ministry of Health & Family Welfare (MoHFW) formulated the National Policy for Rare Diseases, 2021, approved by the Union Cabinet on March 31, 2021, to address these challenges.
The NPRD 2021 aims to reduce the incidence & prevalence of rare diseases through an integrated and comprehensive preventive strategy that includes awareness generation, premarital, post-marital, pre-conception, and post-conception screening and counseling programmes to prevent the birth of children with rare diseases.
The policy aims to reduce the occurrence of rare diseases by implementing a comprehensive preventive strategy. This includes raising awareness and offering screening and counseling programs before and after marriage and conception to prevent the birth of children with rare diseases. Additionally, it seeks to ensure affordable healthcare for patients with rare diseases, considering resource limitations and other healthcare priorities.
The key components of the policy are
– The definition and classification of rare diseases: The policy defines a rare disease as a low-prevalence health condition affecting less than 6-8 per 10,000 people. It also classifies rare diseases into three groups based on the availability and feasibility of treatment:
– Group 1: Disorders amenable to one-time curative therapy such as bone marrow or organ transplantation.
– Group 2: Disorders that require long-term or lifelong treatment with relatively high cost and low efficacy, such as enzyme replacement therapy or immunomodulation therapy.
– Group 3: Disorders for which definitive treatment is not available but supportive or symptomatic care can be offered, such as palliative care or pain management.
– Financial support for treatment: The policy provides for financial support of up to Rs. 20 lakh under the Rashtriya Arogya Nidhi scheme for the treatment of those rare diseases that need a one-time curative treatment (Group 1). This will benefit about 40% of the patients suffering from rare diseases in India.
The policy also proposes a voluntary crowdfunding mechanism in which corporations and individuals can contribute to a corpus fund to treat rare diseases (Group 2 and Group 3). The MoHFW will manage the fund through a transparent process. State governments can consider supporting patients with rare diseases that can be handled with special diets, hormonal supplements, or other relatively low-cost interventions (Group 2).
Keeping in view the resource constraints & a compelling need to prioritize the available resources to get full health gains for the community, the government will endeavor to create alternate funding mechanisms by setting up an online platform for voluntary individual & corporate donors to contribute to the treatment expense of patients of rare diseases (Group 3).
The digital platform will bring together notified hospitals where such patients are getting or coming for treatment, and prospective donors are willing to support such patients’ treatment. The notified hospitals will share information about the patients, diseases from which they are suffering, approximate cost of treatment, & details of bank accounts for donation/contribution through an online system. Donors will be able to view the complete information of patients & donate money to a particular hospital.
This will enable donors from several sections of society to contribute funds, which will be utilized to treat patients suffering from rare diseases.
– Centres of Excellence and NIDAN Kendras: The policy envisages the establishment of centers of excellence in tertiary care hospitals across the country to provide comprehensive care and management for rare diseases. These centers will have facilities for diagnosis, treatment, counseling, training, and research. The policy also aims to strengthen the existing network of NIDAN Kendras (National Inherited Diseases Administration Kendras), which provides screening and diagnostic services for rare diseases at the district level.
– Development of manpower: The policy emphasizes the need to develop skilled and trained manpower for rare diseases, such as medical geneticists, genetic counselors, molecular biologists, bioinformaticians, and paramedical staff. It also proposes to create a consortium of experts from different disciplines to advise and guide the MoHFW on various aspects of rare diseases.
– Increasing affordability of drugs: The policy advocates measures to reduce the cost of drugs related to rare diseases, such as facilitating domestic production, regulating prices, exempting customs duty, and providing subsidies. It also encourages research and development of new drugs and therapies for rare diseases through public-private partnerships.
– Implementation strategy: The policy outlines an implementation strategy that involves coordination among various stakeholders such as central and state governments, civil society organizations, patient groups, industry associations, and international agencies. It also proposes to create a national registry of rare diseases to collect data on their prevalence, incidence, morbidity, and mortality. It also envisages periodic review and monitoring of the policy implementation by an inter-ministerial committee.
Implementation strategy for the policy through a multi-stakeholder approach involving central and state governments, CoEs, Nidan Kendras, patient organizations, civil society organizations, industry partners, donors, etc. A Central Technical Committee (CTC) will be constituted under the Director General of Health Services chairmanship to oversee policy implementation and provide technical guidance. A State Technical Committee (STC) will be constituted under the chairmanship of the Principal Secretary/Secretary (Health) of the state government to coordinate and monitor the implementation of the policy at the state level.
The National Policy for Rare Diseases, 2021 is a welcome step towards addressing the unmet needs of millions of patients suffering from rare diseases in India. It reflects the government’s commitment to providing equitable and accessible health care to all citizens.
Challenges Of National Policy For Rare Diseases, 2021
However, the policy also faces some challenges in its implementation and impact. Some of these are:
– Lack of adequate funds and resources to meet the huge demand and cost of treatment for rare diseases.
– Lack of clarity and coordination among stakeholders, such as central and state governments, health care providers, drug manufacturers, donors, and patients’ groups.
– Lack of awareness and advocacy among the public and policymakers about the burden and needs of rare diseases.
– More robust data and evidence are needed on India’s epidemiology, natural history, and outcomes of rare diseases.
– There is a lack of regulatory framework and guidelines for ensuring the quality, safety, and efficacy of drugs and therapies for rare diseases.
Therefore, all stakeholders need concerted efforts to overcome these challenges and ensure the successful implementation and evaluation of the National Policy for Rare Diseases, 2021. The policy is a step in the right direction, but it needs to be followed by sustained action and commitment to make a difference in the lives of millions of patients with rare diseases and their families in India.
Conclusion
In conclusion, the National Policy for Rare Diseases, 2021 marks a significant milestone in India’s healthcare landscape, reaffirming the nation’s commitment to addressing the unique challenges faced by individuals suffering from rare diseases. The policy lays the groundwork for a more inclusive and supportive healthcare ecosystem for rare disease patients and their families through its comprehensive framework encompassing various aspects such as prevention, diagnosis, treatment, and rehabilitation.
One of the key takeaways from this policy is recognizing the importance of having a dedicated national strategy to tackle rare diseases effectively. By acknowledging the specific needs and vulnerabilities of individuals with rare diseases, the policy sets a precedent for targeted interventions and resource allocation, ensuring equitable access to healthcare services and support systems across the country.
Moreover, the National Policy for Rare Diseases, 2021, acknowledges the financial burden of managing rare diseases, particularly in a resource-constrained setting like India. While the policy outlines provisions for financial assistance and support mechanisms, including creating a dedicated fund, it also recognizes the potential of alternative funding solutions such as crowdfunding platforms. Leveraging the power of crowdfunding offers a viable means of raising additional funds for rare disease research, treatment, and support programs. It fosters greater community engagement and solidarity in addressing healthcare challenges.
