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Insights into Editorial: A good start: On rare diseases and government support for treatment



Recently, the Ministry of Health and Family Welfare has approved the National Rare Disease Policy 2021.

The recent notification of the National Policy for Rare Diseases 2021 after various interventions, including the court, is pegged on this principle of inclusion.

The Delhi High Court had directed the Centre to set up a Rare Diseases Committee, a Rare Diseases Fund and to finalise and notify the National Health Policy for Rare Diseases on or before 31st March, 2021.


WHO definition of Rare diseases:

Rare diseases are broadly defined as diseases that infrequently occur in a population, and three markers are used the total number of people with the disease, its prevalence, and the availability/non-availability of treatment options.

WHO defines rare disease as having a frequency of less than 6.5-10 per 10,000 people.

As per an estimate, there are 7,000 known rare diseases with an estimated 300 million patients in the world; 70 million are in India.

According to the Organization for Rare Diseases India, these include inherited cancers, autoimmune disorders, congenital malformations, Hirschsprung’s disease, Gaucher disease, cystic fibrosis, muscular dystrophies and Lysosomal Storage Disorders (LSDs).


National Rare Disease Policy 2021: Policy Direction:

The policy aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness generation, premarital, post-marital, pre-conception and post-conception screening and counselling programmes to prevent births of children with rare diseases.

Within the constraints on resources and competing health care priorities, enable access to affordable health care to patients of rare diseases which are amenable to one-time treatment or relatively low-cost therapy.


7 points you need to know about the National Policy for Rare Diseases:

  1. Along with lowering the cost of treatment of rare diseases, the policy aims to increase focus on indigenous research and local production of medicines.
  2. Those who are suffering from rare diseases (diseases listed under Group 1 in the rare disease policy) that require one-time treatment will have the financial support of up to Rs20 lakh under the umbrella scheme of Rashtriya Arogya Nidhi. It will cover about 40 per cent of the population who are eligible under the Pradhan Mantri Jan Arogya Yojana.
  3. The policy will make use of a crowdfunding mechanism to cover the cost of treatment of rare diseases.

As part of it, corporates and individuals will be encouraged to extend financial support through a robust IT platform.

  1. national hospital-based registry of rare diseases will be created to ensure adequate data and comprehensive definitions of such diseases are available for those interested in research and development.
  2. Through the help of Health and Wellness Centres, District Early Intervention Centres and counselling, the policy aims to screen and detect rare diseases early at early stages, which will in turn help in their prevention.
  3. A draft of the policy was put in the public domain on January 13, 2020, and comments from stakeholders, the general public, organisations, states and Union territories were invited on the same.
  4. The Supreme Court and various high courts expressed concern about the lack of a national policy for rare diseases.

Rare diseases are difficult to research upon and availability and accessibility to medicines are important in the process of treatment.

The policy aims to help the nation overcome these fundamental challenges.


Rare Diseases: Issues & Challenges:

  1. The field of rare diseases is complex and heterogeneous. The landscape of rare diseases is constantly changing, as there are new rare diseases and conditions being identified and reported regularly in medical literature.
  2. Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage.
  3. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently there was no real research or public health policy concerning issues related to the field.
  4. This poses formidable challenges in development of a comprehensive policy on rare diseases.
  5. Nevertheless, it is important to take steps, in the short as well as long term, with the objective of tackling rare diseases in a holistic and comprehensive manner.


Challenges in research and development:

  1. A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases.
  2. Rare diseases are difficult to research upon as the patient pools very small and it often results in inadequate clinical experience.
  3. 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.
  4. As a result, rare diseases lack published data on long-term treatment outcomes and are often incompletely characterised.
  5. This makes it necessary to explore international and regional collaborations 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.
  6. 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.
  7. There is also a need to review and where possible 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.


The Way Ahead:

If the Centre can extend the cost-sharing agreements that it has worked out with Kerala, Tamil Nadu and Karnataka, with other States too, its share of the annual costs will be halved.

The Centre can, however, still set aside a substantial corpus to fund life-saving treatments, even as it rolls out the policy.

Doing so will not only complete a job well begun even if not yet half done but also cement its commitment towards the welfare of every single citizen in India.

The Policy also envisages a crowd funding mechanism in which corporates and individuals will be encouraged to extend financial support through a robust IT platform for treatment of rare diseases.

Funds so collected will be utilized by Centres of Excellence for treatment of all three categories of rare diseases as first charge and then the balance financial resources could also be used for research.



It is binding on a welfare state to take care of every single citizen.

Securing the wellbeing of every one, particularly those unable to help themselves, irrespective of whether they constitute a critical mass or not, is important.

A good start, it offers financial support for one-time treatment of up to ₹20 lakh, introduces a crowdfunding mechanism, creates a registry of rare diseases, and provides for early detection.

In its final form, however, the policy has left the rare diseases lobby sorely disappointed on a crucial note.

Much of the effort in the sector, from the medical side, has been to evolve formal definitions, in the hope that it would support the development of and commercialisation of drugs for treatment, and improve funding for research on rare diseases.