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The All India Institute of Medical Sciences, Jodhpur (AIIMS) has been included as a Centre of Excellence (CoE) for Rare Diseases under the National Policy for Rare Diseases, 2021. This is expected to enhance the research and access to treatment for rare diseases. Recently, the Director of Centre for DNA-Fingerprinting and Diagnostics (CDFD) observed that 95% of rare diseases do not have a single FDA approved drug for treatment. This shows the challenges associated with treatment of rare diseases. The Government has been commended for coming up with National Policy for Rare Diseases, 2021 to bring focus on rare diseases. However, health experts have pointed out certain gaps in the policy which must be addressed to make it more effective.
What are Rare Diseases?
There is no single, agreed-upon definition of Rare Diseases. Generally speaking, a rare disease is one that occurs rarely. Different countries have different definitions of rare disease; and all definitions are based on how often the disease occurs per 1,000 or 10,000 people.
According to the World Health Organization (WHO), Rare diseases have a prevalence of 1 or less in every 1,000 people or less. Other nations’ definitions vary depending on their unique populations, healthcare infrastructures, and other factors (like disease severity, threat to life, availability of alternative treatment options, heritable etc.). In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (or 6.4 in 10,000 people). In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people (5 in 10,000 people). Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04% or 4 in 10,000) in the country.
According to the National Health Portal (Government of India), there may be ~7,000 rare diseases. ~70% of rare diseases are genetic in origin. Globally, there are 300 million people living with a rare disease.
According to the National Policy for Rare Diseases document, India has close to 50-100 million people who are affected by rare diseases or disorders. Almost 80% of these rare condition patients are children. The policy report says that the high morbidity and mortality rates of these life-threatening diseases are a leading cause for the majority of these children not reaching adulthood.
Example of rare disease include Inherited cancers, Autoimmune disorders, Congenital malformations, Hirschsprung’s disease, Gaucher disease, Cystic fibrosis, Muscular dystrophies and Lysosomal Storage Disorders (LSDs).
What are the challenges associated with Rare Diseases?
Varying Definitions: The use of varying definitions and diverse terminology can result in confusion and inconsistencies and has implications for access to treatment and for research and development.
Diagnosis of rare diseases: Early diagnosis of rare diseases is a challenge owing to multiple factors that include: (a) Lack of awareness among primary care physicians; (b) Lack of adequate screening and diagnostic facilities.
For instance, According to Rare Disease Impact Report, it takes patients in the US and the UK an average of 7.6 years and 5.6 years respectively, to receive an accurate diagnosis. The process typically involves as many as 8 physicians (four primary care and four specialists). In addition, two to three misdiagnoses are typical before arriving at a final diagnosis. Delay in diagnosis or a wrong diagnosis increases the suffering of the patients exponentially.
Research and Development: There is relatively little knowledge about the pathophysiology or the natural history of these diseases. Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience. Therefore, the clinical explanation of rare diseases may be skewed or partial. The challenge becomes even greater as rare diseases are chronic in nature, where long term follow-up is particularly important. As a result, rare diseases lack published data on long-term treatment outcomes and are often incompletely characterised.
Challenges in Treatment: (a) Unavailability of Treatment: Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases. Despite progress in recent years, effective or safe treatment is not available for most of the rare diseases. Hence, even when a correct diagnosis is made, a therapy may not available for the disease. There are between 7,000 – 8,000 rare diseases, but less than 5% have therapies available to treat them. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment; (b) Prohibitive Cost of Treatment: As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to undertake R&D and develop drugs. For this reason, rare diseases are also called ‘orphan diseases‘ and drugs to treat them are called ‘orphan drugs‘. When the drugs are available for a rare disease, the prices are extremely high apparently to recoup the cost of research and development.
It is estimated that for a child weighing 10 kg, the annual cost of treatment for some rare diseases, may vary from INR 10 lakh to more than 1 crore per year with treatment being lifelong and drug dose and cost, increasing with age and weight.
What are the salient features of National Policy for Rare Diseases, 2021?
Aim: The policy aims to lower the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy. The strategy includes awareness generation, counselling programmes, providing affordable Health Care among others.
Categorisation: The policy categorizes rare diseases into three groups: (a) Group 1: Disorders amenable to one-time curative treatment; (b) Group 2: Diseases requiring long term or lifelong treatment; (c) Group 3: Diseases for which definitive treatment is available, but challenges are to make an optimal patient selection for benefit.
Government Support: (a) The government will provide Financial support of up to INR 20 lakh under the Umbrella Scheme of Rashtriya Arogya Nidhi for treatment of those rare diseases listed under Group 1; (b) Beneficiaries for such financial assistance would not be limited to BPL families. About 40% of the population, eligible under Pradhan Mantri Jan Arogya Yojana, will also be eligible for assistance; (c) For group 2, the State Governments can consider supporting specific patients. It includes a rare disease that can be managed with special diets or hormonal supplements or other relatively low-cost interventions (Diseases listed under Group 2).
Voluntary Crowdfunding: The Government will assist in voluntary crowd-funding for the treatment of Group 3. It is because it will be difficult to fully finance the treatment of high-cost rare diseases of Group 3.
Centres of Excellence: The initiative intends to boost tertiary health care facilities for preventing and treating uncommon diseases by designating certain premier Government tertiary hospitals as ‘Centres of Excellence’. These would also receive up to INR 5 crore for upgrading testing facilities.
Nidan Kendras: Nidan Kendras will be set up by the Department of Biotechnology (DBT) under Unique Methods of Management and treatment of Inherited Disorders (UMMID) project for genetic testing and counseling services. These Kendras will be set-up for screening, testing, and counselling of rare diseases and also provide treatment if the facilities exist.
National Registry for Rare Diseases: Nationwide hospital-based registry of rare diseases will be created so researchers have appropriate data and definitions.
What are the concerns associated with the National Policy for Rare Diseases?
Lack of Definition: The Policy does not define rare disease in India due to lack of adequate data. Instead it has provided for creation of a hospital based National Registry for Rare Diseases under the ICMR to collect the much needed epidemiological data for rare diseases. For now 3 categories have been provided (listed above). Absence of definition will impact diagnosis and possible treatment.
Neglect of Group 3 patients: Unlike conditions under Group 1 and Group 2, patients with Group 3 disorders require sustainable treatment support. Due to absence of long-term funding support, they are at greater risk and dependent upon crowd-funding, which is not very reliable.
Lacking support from States and UTs: National registry has been set up by ICMR (in 2017) to prepare a database of rare diseases in India. This is essential to arrive at a definition of rare diseases. Only 12 States and 4 UTs have approved institutions that have the facility of qualified investigators for the identification and diagnosis of rare diseases.
Absence of Proper Mechanisms: The policy does not lay out clear guidelines regarding the coordination required among the various levels between all stakeholder institutions e.g., there is heavy reliance on healthcare workers to undertake screening activities for early diagnosis. After diagnosis there is a need for procedure for patients for further treatment (like referral of institute). There is a need of framework for reporting the data from health care workers to tertiary hospitals, Centres of Excellence, and Nidan Kendras etc. Such guidelines and frameworks are absent.
There is no referral mechanism to access the Nidan Kendras and Centres of Excellence stated in the policy. This would result in the unavailability of data to build the registry.
Cost Sharing: In the previous policy, there was no clarity on cost sharing. The current Policy says that the Union Government will cover costs, but there is no clarity on the implementing the proposed benefits. The policy lacks a cross-control system for diagnosis, preventive, and financial aid.
Financial Support: The current policy says that all diseases will get the same amount of money (INR 20 lakh), even if treatment costs INR 10 lakh or INR 10 crore. For funds to be used more effectively, a cap on financial help needs to be set by disease, and a more centred approach to the problem is needed.
Empanelment: There is no guideline on empanelment of hospital and claim of funds in case of any rare disease diagnosed.
Drug Manufacturing: The Policy states that the pharmaceutical industries would be encouraged to develop drugs for rare diseases with appropriate policy support (like tax benefit and research grants etc.). However, no such policy has been formulated so far. The absence of incentives to domestic drug manufacturers to invest funds into the R&D severely limits the ability to develop new drugs.
What should be done going ahead?
The Government should address the gaps in the National Policy for Rare Disesases.
Comprehensive Definition: A more reliable approach to arriving at a definition could be based on the factors like location, level of rarity among others.
Awareness Generation: There is an immediate need to create awareness amongst general public, patients & their families and doctors, training of doctors for early and accurate diagnosis, standardization of diagnostic modalities and development of newer diagnostic and therapeutic tools.
Collaborations: There is need to explore international and regional cooperation for research, collaborations with the physicians who work on any rare disease and with patient groups and families dealing with the consequences of these disorders. This will help gain a better understanding of the pathophysiology of these diseases, and the therapeutic effects that would have a meaningful impact on the lives of patients. There is also a need to review and modify clinical trial norms keeping in mind the particular challenges in rare diseases, without compromising on the safety and quality of the drugs or diagnostic tools.
Transparency: There should be transparency in setting prices of drugs and for price control for drugs for rare diseases.
Resource Utilisation: As resources are limited and have multiple uses, the policy makers have to make choice of prioritizing certain set of interventions over others.
Center-State Cooperation: Public Health and Hospitals are State subjects. The Union Government should encourage and support the States in their endeavour towards screening and prevention of rare diseases through Centres of Excellence and Nidan Kendras.
Policy on Orphan Drugs: The Government must come up with appropriate policy measures for supporting R&D and drug development for rare diseases.
Global Experience: (a) USA: Orphan Drugs Act, incentivises industry by way of market exclusivity, grants to researchers and tax incentives on expenditure incurred during drug development; (b) EU: The European Joint Programme on Rare Disease focuses on research for treatment of rare diseases; (c) UK: The National Health Service (NHS) England provides that the treatment for Spinal Muscular Atrophy (SMA) will be made available to the youngest and most severely-affected (SMA Type 1) patients immediately by Biogen (Pharma company that manufactures treatment for SMA), with NHS England offering funding on National Institute for Health and Care Excellence (NICE) publication of final guidance; (d) Singapore: A Rare Disease Fund – has been created to fund five medicines to treat three rare disease conditions; (e) In Malaysia and Australia subsidised access to expensive and lifesaving drugs is provided for eligible patients.
The National Policy for Rare Diseases, 2021 has some commendable provisions and initiatives to improve the situation with respect diagnosis and treatment of rare diseases. However, the Government must step up efforts to address the shortcomings in the Policy. The most urgent need is to support the development of life-saving drugs through appropriate policy support.
Syllabus: GS II, Government policies and interventions for development in various sectors and issues arising out of their design and implementation; Issues relating to development and management of Social Sector/Services relating to Health.