National Policy for Rare Diseases, 2021

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Recently, the Government of India has announced the National Policy for Rare Diseases, 2021.

Rare Diseases

• Rare diseases (also called “Orphan” 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).
• The World Health Organisation (WHO) defines a 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.
• Challenges in Fighting Rare Diseases
  • These diseases have differing definitions in various countries and present fundamentally different challenges from those of more common diseases.
    • According to the Organization for Rare Diseases India, rare diseases include inherited cancers, autoimmune disorders, congenital malformations, Hirschsprung’s disease, Gaucher disease, cystic fibrosis, muscular dystrophies and Lysosomal Storage Disorders (LSDs)
  • Less than 5% have therapies available to treat them and about 95% 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 resources and also the government has not been able to provide these for free.
  • This is most apparent during the clinical development stage when rarity significantly complicates the task.
    • Problems include the small number of patients, the logistics involved in reaching widely dispersed patients, the lack of validated biomarkers and surrogate end-points, and limited clinical expertise and expert centres.
  • In India, there is a lack of epidemiological data on the prevalence here and hence has only classified certain diseases as ‘rare’.
    • There are an estimated 70 million patients in India.
• Steps Taken
  • The International Rare Diseases Research Consortium (IRDiRC) was launched in 2011 to foster international collaboration in rare diseases research.
  • However, despite these positive developments, the burden of rare diseases continues to persist.

National Policy for Rare Diseases, 2021

• It offers financial support for one-time treatment of up to Rs. 20 lakh, introduces a crowdfunding mechanism, creates a registry of rare diseases and provides for early detection.
• It was first prepared by the Centre in 2017 but was put on hold due to questions on its formation, criterias, cost sharing, beneficiaries, etc.
• An expert group was constituted in 2018 to review these questions, which submitted its report in January 2021 and after a further round of consultation, the policy has been made public.
• It categories ‘rare disease’ into three groups.
  • Group 1: Disorders amenable to one-time curative treatment.
    • Eligible for a one-time treatment cost of up to Rs. 20 lakh provided the beneficiaries conformed to definition of the Pradhan Mantri Jan Arogya Yojana and were treated in government tertiary care hospital, under the umbrella scheme of Rashtriya Arogya Nidhi (RAN).
      • RAN provides for financial assistance to patients, living below poverty line (BPL) and who are suffering from major life threatening diseases, to receive medical treatment at any of the super specialty Government hospitals/institutes.
  • Group 2: Diseases requiring long term/lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required.
    • States could “consider” supporting patients of such rare diseases that could be managed with special diets or hormonal supplements.
  • Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.
• The government would notify selected Centres of Excellence at premier government hospitals for comprehensive management of rare diseases.
  • The Centres of Excellence would be provided a one-time grant to a maximum of Rs. 5 crore each for infrastructure development for screening, tests, treatment.
• Significance
  • It will increase focus on indigenous research and local production of medicines.
  • Under crowdfunding, corporates and individuals will be encouraged to extend financial support through a robust IT platform.
  • The national hospital-based registry will ensure adequate data and comprehensive definitions of such diseases.
  • Early screening and detection will help the prevention of rare diseases.

Concerns Related to the Policy

• It offers no support to patients under the earlier National Policy for Treatment of Rare Diseases 2017.
• Patients with Group 3 rare diseases are left to fend for themselves due to lack of proper selection criteria.
• In the absence of a sustainable funding support for Group 3 patients, the lives of all patients, mostly children, are now at risk and at the mercy of crowdfunding.
• Even Group 1 is only for a few and Group 2 has been openly left for the State government.
• The policy fails to capture that these diseases last a lifetime and also does not realise that people might not be able to even make it to the prescribed tertiary hospitals for treatment.
• Diseases such as LSD for which definitive treatment is available, but costs are prohibitive, have been categorised as Group 3. However, no funding has been allocated for the immediate and lifelong treatment needs, for therapies already approved by the Drugs Controller General of India (DGCI).

Suggestions

• There is a need to balance competing priorities of public health in “resource-constrained” settings.
• The Ministry of Health and Family Welfare should come up with an immediate seed-funding of Rs. 80 crore to Rs. 100 crore so that the life-saving therapy of all patients can be provided, thereby reducing further loss of life.
• It should also design and execute a 100-day roll-out plan after the national policy is notified to prioritise treatment of all eligible rare disease patients and prioritise and encourage States with a matching grant.
• If the Centre is able to 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.

Source: TH