Home ICMR National policy for rare diseases : bane or boon

National policy for rare diseases : bane or boon

September 20, 2021

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This article is written by Vanya Verma from O.P. Jindal Global University. This article covers in detail analysis of the National Policy for rare diseases as well as the criticism of the Policy.

Table of Contents

Introduction

On March 30, 2021, Union Health and Family Welfare Minister, Dr Harsh Vardhan adopted the National Policy for Rare Diseases 2021. Various stakeholders have been calling for a comprehensive policy for the prevention and management of rare diseases for quite some time.

The Delhi High Court had already ordered the Centre to establish a Rare Diseases Committee and a Rare Diseases Fund, as well as to finalise and notify a National Health Policy for Rare Diseases by March 31, 2021.

Though there are certain advantages of the National Policy for Rare Diseases, 2021, it is still unsatisfactory to caregivers of patients with “rare diseases” and affiliated organisations. Even though the agreement specifies an increase in government support for treating patients with a “rare condition” from 15 lakh to 20 lakh, caregivers claim that this does not reflect actual treatment expenses. However, advocacy groups have raised concerns about the policy’s lack of funding support for people with life-threatening rare genetic illnesses.

What is a rare disease

A rare disease is defined by the World Health Organization as a debilitating lifelong disease or disorder with a prevalence of 1 or less per 1000 population. Different countries, on the other hand, have their definitions to fit their own needs and in the context of their population, healthcare system, and resources.

India, like many other developing countries, lacks a standardised classification of rare diseases as well as data on their prevalence. There are no estimates on the burden of rare diseases, as well as the morbidity and death associated with them because epidemiological data are lacking.

To address this, the Indian Council of Medical Research (ICMR) has launched a hospital-based Indian Rare Diseases Registry, which will encompass facilities across the country that specialise in the diagnosis and management of rare diseases. This will provide rare illness epidemiologists with much-needed data.

Only 450 rare diseases have been identified in India’s tertiary care facilities so far. The following are the most prevalent rare diseases:

Haemophilia;
Thalassemia;
Sickle Cell Anaemia;
Primary ImmunoDeficiency in children;
Auto-immune diseases;
Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas; and
Certain forms of muscular dystrophies.

Facts about rare diseases

There are 6,000-8,000 diseases categorised as rare, yet only around 5% of them have medicines available to treat them. Examples of rare diseases- Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, haemophilia, and other diseases.
Rare diseases have no approved treatments in 95 per cent of cases, and only around 1 in 10 patients receive disease-specific medication.
These disorders are defined differently in different countries and range in prevalence from 1 in 10,000 to 6 per 10,000 people.
A ‘rare disease,’ on the other hand, is described as a health problem with a low prevalence that affects a limited number of persons in comparison to other common diseases in the general population. Rare diseases can be acute, persistent, and life-threatening in many circumstances.
According to the policy report, people in India that are affected by rare diseases or disorders have nearly 80 percent of these patients as children, and the high morbidity and mortality rates of these life-threatening diseases is a major reason for most of them not reaching adulthood.

Need of the Rare Diseases Policy

The subject of rare diseases is extremely complicated and diversified, posing numerous obstacles in terms of prevention, treatment, and management. Due to a variety of issues such as a lack of awareness among primary care physicians, a lack of proper screening and diagnostic facilities, and so on, early detection of rare diseases is a huge challenge.

The bulk of rare diseases face basic hurdles in research and development because little is known about the pathophysiology of the natural history of these diseases, particularly in the Indian context. Rare diseases are especially difficult to study since the patient pool is small, resulting in little clinical experience. Medicine availability and accessibility are also critical in reducing the morbidity and mortality linked with rare diseases. Despite recent improvements, there is still a need to improve the effectiveness and safety of rare disease treatment. The expense of rare disease therapy is unreasonably high. The lack of a national policy for rare diseases has also been acknowledged as a source of concern by several High Courts and the Supreme Court.

After extensive talks with many stakeholders and professionals in the field, the Ministry of Health and Family Welfare has produced a very thorough National Policy for Rare Diseases 2021 to address all of these difficulties. On the 13th of January 2020, a draught policy for rare diseases was made public, and all stakeholders, the general public, organisations, and states and union territories were encouraged to comment. All the comments received were examined in depth by an Expert Committee constituted by the Ministry.

With the support of a National Consortium to be established with the Department of Health Research, Ministry of Health & Family Welfare as convenor, the Rare Diseases Policy aims to minimise the high cost of treatment for rare diseases by focusing more on indigenous research. The cost of treating rare diseases will be reduced by a greater focus on research and development and local production of medications. The strategy also calls for the establishment of a national registry of rare diseases based in hospitals, so that appropriate data is accessible for defining rare diseases and conducting research and development on rare diseases in the country.

Early screening and prevention are also emphasised in the policy, with basic and secondary health care infrastructure such as Health and Wellness Centres and District Early Intervention Centres (DEICs) as well as counselling for high-risk parents. Nidan Kendras established by the Department of Biotechnology will also help with screening. The policy also aims to boost tertiary health care facilities for the prevention and treatment of rare illnesses by designating 8 health facilities as Centres of Excellence, with each CoE receiving one-time financial support of up to Rs 5 crore for diagnostics facility upgrades.

Under the Rashtriya Arogya Nidhi Umbrella Scheme, a provision for financial help up to Rs. 20 lakhs is provided for the treatment of those rare diseases that require a one-time therapy (diseases listed under Group 1 in the rare disease policy). Beneficiaries of such financial support will not be confined to BPL families but will cover around 40% of the population who are eligible under the Pradhan Mantri Jan Arogya Yojana.

Key features of the Policy

Under the Indian Council of Medical Research (ICMR), a patient registry for rare diseases will be established.
According to the policy, rare diseases are defined as genetic diseases, rare malignancies, infectious tropical diseases, and degenerative diseases.

Patients with rare diseases who require a one-time curative therapy will be eligible for Rs 15 lakh in aid under the ‘Rashtriya Arogya Nidhi Scheme‘. Only those who are eligible for the Pradhan Mantri Jan Arogya Yojana will be treated.
State governments may consider supporting people with disorders described in Group 2 that can be controlled with special diets, hormone supplements, or other relatively low-cost treatments.
Certain medical institutes will be designated as Centers of Excellence for Rare Diseases under the policy. AIIMS, New Delhi; Sanjay Gandhi PostGraduate Institute of Medical Science, Lucknow; King Edward Medical Hospital, Mumbai; and four others are among the participants.
Certain disorders, such as Hurler Syndrome, Gaucher’s disease, and Wolman disease, can cost anywhere from Rs 10 lakh to Rs 1 crore per year to treat. A digital platform will be created to raise donations and corporate funding for diseases like these.
It recommends the formation of a national inter-ministerial consultation group. The Ministry of Health and Family Welfare (MoHFW) will lead the committee.
It also intends to establish an Administrative Committee that will prepare guidelines for funding rare diseases.

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Aim of the policy

Increased emphasis on indigenous research and manufacture of medicines.
To bring down the cost of treating rare diseases.
Screening and detection of rare diseases at an early stage, which will aid in prevention.

Categorization of diseases under the policy

The policy classifies rare diseases into three groups:

Group 1: It includes disorders that can be controlled with a one-time curative medication. Examples: osteopetrosis and Fanconi anaemia.
Group 2: It includes diseases that require long-term or lifelong treatment with a relatively lower cost of treatment and confirmed benefits in the literature. For example, Galactosemia, severe food protein allergy, and homocystinuria.
Group 3: It includes disorders that require long-term or lifelong treatment with a relatively lower cost of treatment and confirmed benefit in the literature. For example, spinal muscular atrophy (SMA), Pompe disease, and Hunter syndrome.

The government has decided to give poor patients and those insured by Ayushman Bharat for Group 1 disorders Rs. 20 lakh.

The government would build a digital platform to bring together Centers of Excellence, patients undergoing treatment, corporate donors, and potential volunteer persons who may assist pay treatment for diseases classed as Group 3, which require life-long expensive treatments.
For the treatment of rare diseases, the government has designated eight Centers of Excellence.
Diseases covered by Group 2, which mostly comprise disorders controlled with special dietary formulae or food for special medical reasons (FSMP) and disorders manageable with various forms of therapy, will be entrusted to state governments for treatment.

According to many caregivers of patients with rare diseases, one of the complaints of the National Policy for Therapy of Rare Diseases, 2021 is that Rs. 20 lakh appears to be fairly low and does not cover the actual costs of treatment. Another point of contention is that more centres of excellence should be established to serve the needs of persons with rare diseases.

Financial support defined under the policy

Those suffering from rare diseases in Group 1 will be eligible for financial assistance of up to Rs. 20 lakh under the Rashtriya Arogya Nidhi umbrella plan.
Rashtriya Arogya Nidhi (Rashtriya Arogya Nidhi): Patients living below the poverty line (BPL) who are suffering from significant life-threatening conditions are eligible for financial assistance to receive medical care at any of the super-speciality Government hospitals/institutes.
Beneficiaries for such financial help would not be confined to BPL families, but would also include nearly 40% of the population who are eligible for treatment in government tertiary hospitals under the Pradhan Mantri Jan Arogya Yojana.
Alternate funding under the policy includes building up a digital platform for individual and corporate contributors to voluntarily contribute to the treatment costs of people with rare diseases through voluntary crowdfunding.

Centres of Excellence

The policy intends to boost tertiary health care facilities for the prevention and treatment of rare illnesses by designating eight health facilities as ‘Centres of Excellence,’ with up to Rs. 5 crores in one-time financial support for diagnostics upgrades.

National Registry

A nationwide hospital-based registry for rare diseases will be established to ensure that enough data and detailed definitions of such disorders are available to researchers and developers.

Criticism of the Policy

Lack of sustainable funding as patients with Group 3 diseases, unlike those in Groups 1 and 2, require long-term therapy support. In the lack of a long-term financing source for Group 3 patients, the lives of all patients, most of whom are children, are now at risk and at the mercy of crowdsourcing.
Rare diseases advocacy and support organisations have criticised the programme for several flaws, including a lack of funding for families and individuals living with rare diseases. They have pointed out that the intended financial support has been reduced to a limit of Rs 15 lakh per case under an umbrella scheme – ‘Rashtriya Arogya Nidhi’ – for individuals with a rare disease in Group 1 that requires only one treatment. This is significantly less than the Rs 100 crore corpus fund that was originally intended.
The policy also deflects responsibility, stating that crowdfunding can be utilised to provide financial assistance. It designates eight hospitals across India as ‘centres of excellence,’ and it is up to them to put up crowdfunding projects for patients who require it, or for families to look into crowdfunding treatment choices themselves.
The policy places a limit on how much money may be spent on various diseases. While therapy for one ailment may cost Rs 10 lakh, another disease may cost Rs 1 crore to cover the cost of pharmaceuticals, which are only bound to increase over time.
Since the prior National Policy for Treatment of Rare Diseases 2017 was put on hold, the new policy does not assist individuals awaiting treatment.
The new policy has no consideration for Group 3 patients, who require lifelong treatment support.
The policy has been criticised for functioning more like a series of guidelines for understanding the disease rather than prescribing specific activities that the government must take to assist those who are affected.
As public health and hospitals are a state responsibility, the federal government will encourage and support states in their efforts to screen for and prevent rare diseases. While screening has been emphasised as a preventive strategy, no details on how and when screening will take place, nor on how screening will be administered, have been provided.
No funding has been allocated for the immediate and lifelong treatment needs, for therapies already approved by the Drugs Controller General of India.
The policy has a relatively limited reach, focusing on only three categories and disregarding those where therapy is still being developed and R&D is needed.
Lack of Drug Manufacturing as where pharmaceuticals are accessible, they are excessively expensive, putting a burden on limited resources. Currently, just a few pharmaceutical businesses throughout the world manufacture treatments for rare diseases, and India has no domestic producers other than those who provide medical-grade food for those with metabolic disorders.

Conclusion

Experts estimate that the annual expenditures of assisting already diagnosed patients could be in the range of Rs. 80-100 crore. To be clear, the Centre has reached out to Kerala, Tamil Nadu, and Karnataka to hammer out cost-sharing agreements. If it can spread this to other States, its annual costs will be cut in half. Even as the policy is being implemented, the Centre can set aside a significant sum to finance life-saving therapies.

References

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