Rare diseases policy outlines challenges sans solutions
There is no substantial data on the number of people suffering from rare diseases in India and the data that is available is from tertiary care hospitals. The lack of epidemiological data on rare diseases makes it a herculean task to determine the prevalence and burden of rare diseases, hence hampering the definition of rare diseases in the Indian context.
The National Policy for Treatment of Rare Diseases (NPTRD) was formulated by the Ministry of Health and Family Welfare (MoH&FW), Government of India in July, 2017. The policy, however, has faced challenges with implementation. One of them was bringing the states on board and the lack of clarity on the quantum of support for the states from the Centre in terms of tertiary care.
Due to these challenges, an Expert Committee was constituted by MoH&FW in November, 2018 to review the NPTRD, 2017. The Expert Committee, along with the approval of the competent authority, finalised a draft of the National Policy for Rare Diseases and placed it in the public domain on January 13, 2020 for all stake holders to review and recommend. Reviews and recommendations were examined by an Expert Committee set up by the Directorate General of Health Services (DGHS). It has finalised the policy after further deliberations, examination of recommendations. There are between 7000 and 8000 rare diseases, but less than 5 per cent have therapies available to treat them. About 95 per cent rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment. Where drugs are available, they are prohibitively expensive, placing immense strain on the resources.
Rampant delayed diagnosis
There are also varying definitions of rare diseases. The World Health Organisation (WHO) defines rare disease as a debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. The US defines rare diseases as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). The European Union (EU) defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04 per cent) in the country. According to the ‘Rare Disease Impact Report: Insights from patients and the medical community’ (a report commissioned by Shire and developed in collaboration with an external advisory board), it takes patients in the US an average of 7.6 years and patients in the UK an average of 5.6 years to receive an accurate diagnosis, typically involving as many as eight 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. There is an immediate need to create awareness amongst the general public, patients, their families and doctors. Training of doctors to facilitate early and accurate diagnosis, standardisation of diagnostic modalities and development of newer diagnostic and therapeutic tools is an urgent requirement.
Lack of ‘Orphan Drugs’
Despite the progress that life sciences has made in the last few decades, availability of medicines and therapy related to rare diseases to prevent morbidity and mortality has remained low. As per a paper published in the Lancet, there is no approved treatment for 95 per cent of rare diseases. The number of people suffering from rare diseases also termed as ‘orphan diseases’ are comparatively small, hence they do not constitute a significant market for pharma companies. Drugs to treat rare diseases are also called ‘orphan drugs’ and very few pharma companies make these drugs as the cost of R&D is monumental.
Whither data?
There is no substantial data on the number of people suffering from rare diseases in India and the data that is available is from tertiary care hospitals. The lack of epidemiological data on rare diseases makes it a herculean task to determine the prevalence and burden of rare diseases, hence hampering the definition of rare diseases in the Indian context. The most commonly reported diseases are primary immunodeficiency disorders, lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc., small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias etc), cystic fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc.
Problems without solutions
NPTRD 2021, even though it is a welcome move, has not been accepted well by the rare diseases community as the policy itself is severely flawed, leaving a massive void that needs to be filled. Organisation for Rare Diseases India (ORDI) is of the opinion that the government has taken a rather cavalier approach to the issue of affordability of the care needed to sustain a life of dignity for persons living with rare diseases as the policy suggests that a patient should rely on crowdfunding for treatment. Prasanna Shirol, Founder Director, ORDI, Bengaluru states, “The NPTRD policy 2021 is simply a draft compilation of a few existing initiatives and a policy directive for the future but without any funding, timeline, relation, and actionable. This policy has only listed the challenges of the rare disease community without focusing on sustainable solutions; no concrete action plans have been mentioned.”
Shirol in a statement exclaimed, “The NPRD, 2021, is a mockery of the right to health each
“The lack of foresight and grounding in the rare disease community’s reality shines through the cold and thoughtless drafting of the NPRD 2021. A truly shocking thing, given the hundreds of High Court cases, individual representations, and representations spanning almost two decades by patient advocacy groups. But we will continue to fight on - till every person living with a rare disease, irrespective of age, or any socioeconomic factors, has the right to health.’’
- Prasanna Shirol,
Founder Director, ORDI, Bengaluru
“The announcement of the rare diseases policy is a comprehensive step forward by the government that will further add impetus to the rare diseases ecosystem, thus ensuring timely access to therapy and treatment.”
- Gopal Agrawal,
Head of Market Access and Pricing- Takeda India, Gurugram
“Efforts should be made for regional medical institutes to act as ‘collection centres’ for blood or tissue samples. These samples can be sent to higher centres or other apex laboratories for diagnosis. Unless, diagnosis is done, treatment cannot be initiated. Once diagnosis is confirmed, the government should take full responsibility of the patient for further medical and other logistics care of the patient.”
- Dr Ajoy Kishore Ravi,
Consultant, UNICEF, Ranchi
person in India enjoys, because it ignores the true needs of the rare disease community in India.
The lack of foresight and grounding in the rare disease community’s reality shines through the cold and thoughtless drafting of the NPRD 2021. A truly shocking thing, given the hundreds of High Court cases, individual representations, and representations spanning almost two decades by patient advocacy groups. But we will continue to fight on - till every person living with a rare disease, irrespective of age, or any socio-economic factors, has the right to health.”
Even after being in the works for four years this policy doesn’t address the immediate need of the rare disease community, which is estimated to 70 million in India, as the policy neither addresses the major current issues nor does it have a robust plan for the future.
India currently has two definitions of rare diseases: ICMR defines rare disease as 1: 2500. This is based on comprehensive consultation from genetic doctors across India; New Drug and Clinical Trials Rules of Orphan Drug under Rule 2(1)(x) states that an -“Orphan drug means a drug intended to treat a condition which affects not more than five lakh persons in India.” The policy not only fails to define rare diseases, but also is simply a draft compilation of a few existing initiatives and a policy directive for the future but without any funding, timeline, relation, and actionable. This policy only lists the challenges of the rare disease community with no focus on sustainable solutions and no concrete action plans.
It isn’t only NPTRD 2021 that requires immediate attention, as there are not enough labs that conduct tests for rare diseases, awareness about rare diseases is another prominent issue, even amongst educated masses, other important factors are availability/ affordability of treatment drugs, correct diagnosis and timely treatment.
There are a lot of inroads that have to be made if this policy truly has succeed in catering to all those who are in desperate need of this. Gopal Agrawal, Head of Market Access and Pricing- Takeda India, Gurugram comments, “The announcement of the rare diseases policy is a comprehensive step forward by the government that will further add impetus to the rare diseases ecosystem, thus ensuring timely access to therapy and treatment. With the policy now in place, there is considerable ground work that will be required for successful implementation of the policy. It will be instrumental to build innovative access initiatives and strategic partnerships across the rare disease landscape to bring customised solution for patients with targeted education, awareness, diagnosis and treatment.”
The Centre and states need to come to a consensus to address issues related to rare diseases as there isn’t enough data and infrastructure available to ascertain what should be considered a rare disease and what doesn’t fall into the category of rare diseases. The funds allocated for the National Health Policy for Rare Diseases currently stands at Rs 25 crore for the year 2021-22 and an additional sum of Rs 4.10 crore has been remitted to the All India Institute of Medical Sciences (AIIMS) under the rare disease component of the umbrella scheme of Rashtriya Arogya Nidhi (RAN) for 2020-21. The amount isn’t enough as treatment, research and drug development costs are going to be monumental.
Dr Ajoy Kishore Ravi, Consultant, United Nations Children’s Emergency Fund (UNICEF), Ranchi opines, “Efforts should be made for regional medical institutes to act as ‘collection centres’ for blood or tissue samples. These samples can be sent to higher centres or other apex laboratories
“Appropriate definitions need to be in place so that potential drug developers are aligned with policy makers and prioritise their research. Another important issue is the need for waiver of local clinical trial requirements based on the safety and efficacy data submitted to other regulatory agencies such as US FDA, EMEA etc. This will enable access to these lifesaving drugs to patients with unmet needs earlier.”
- Dr Sanish Davis, President, ISCR, Mumbai
for diagnosis. Unless, diagnosis is done, treatment cannot be initiated. Once diagnosis is confirmed, the government should take full responsibility of the patient for further medical and other logistics care of the patient. Dedicated personnel should be involved for implementation of this sensitive missionary job. Procedures should be performed on priority basis, with waiting periods minimised. Hospital beds should be ear-marked for such diseases, R&D should be encouraged. Doctors should be encouraged to opt for these research oriented specialities by offering them financial and promotional incentives in their professional career.”
The policy is flawed, but has been envisioned with good intent. There needs to be specific funds allocation for treatment of diseases in Group II & III categories instead of relying on crowd funding as the solution. Responding the policy initiatives, The Indian Society for Clinical Research (ISCR), an association of clinical research professionals is of the opinion that the funding allocated for Group II & III diseases isn’t adequate as they require longterm treatments. The other major issue that ISCR highlights is to get research priorities correct and the need to align the definition of ‘rare disease’ with that of ‘orphan drug’ under the New Drugs & Clinical Trials Rules 2019.
“Appropriate definitions need to be in place so that potential drug developers are aligned with policy makers and prioritise their research. Another important issue is the need for waiver of local clinical trial requirements based on the safety and efficacy data submitted to other regulatory agencies such as US FDA, EMEA etc. This will enable access to these lifesaving drugs to patients with unmet needs earlier. This will also open up India for participation in both early and late stage global clinical development programmes thereby also enabling the generation of safety and efficacy data in the local population,” adds
Dr Sanish Davis, President, ISCR, Mumbai.
The policy immediately needs to urgently define what is a ‘rare disease’ and develop a robust, long term plan. States need directives and support from the central government to tackle Group II disorders. Woefully, there are, presently, only eight Centres of Excellence for management of rare diseases which aren’t enough considering the population of the nation.