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National Policy for Rare Diseases 2021

2021 APR 9

Mains   > Social justice   >   Health   >   Diseases

IN NEWS:

  • Dr. Harsh Vardhan, Union Health & Family Welfare Minister approved the “National Policy for Rare Diseases 2021”.

RARE DISEASES:

  • A rare disease is any disease that affects a small percentage of the population. A rare disease occurs infrequently in a population, but there is no universal definition. It varies from country to country.
  • Three elements to define rare diseases as used in various countries are as follows:
    • The total number of people having the disease
    • Its prevalence
    • Non-availability of treatment for the disorder
  • India, like many developing countries, currently has no standard definition. The World Health Organization (WHO) has suggested that a rare disease should be defined as one with frequency less than 6.5 – 10 per 10,000 people.
  • Rare diseases became known as orphan diseases when drug companies are not interested in adopting them to develop treatments.

RARE DISEASES IN INDIA:

  • According to the Organisation of Rare Diseases India, over 350 Million people world-wide are affected by rare diseases. Of these, approximately 70 Million are in India.
  • Rare Diseases include inherited cancers, autoimmune disorders, Gaucher disease, cystic fibrosis, muscular dystrophies and Lysosomal Storage Disorders.
  • About 80% of Rare Diseases are genetic in origin.

RARE DISEASES: ISSUES & CHALLENGES:

  • Varying definitions: Different countries have their own definitions of rare diseases. 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: Early diagnosis of rare diseases is a challenge owing to multiple factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities.
  • Challenges in research and development: Rare diseases are difficult to research upon as the patient pool is very small. Hence, rare diseases lack published data on long-term treatment outcomes and are often incompletely characterised.
  • Unavailability of treatment: Less than 5% of rare diseases have therapies available to treat them and less than 1 in 10 patients receive disease specific treatment.
  • 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. Where, they do make drugs to treat rare diseases, the prices are extremely high apparently to recoup the cost of research and development.
  • Absence of data in India: Data on how many people suffer from different rare diseases is lacking in India. The lack of epidemiological data on incidence and prevalence of rare diseases impedes understanding of the extent of the burden of rare diseases and development of a 10 definition

NATIONAL POLICY FOR RARE DISEASES 2021:

  • Categorization of diseases:
    • Group 1: Disorders amenable to one-time curative treatment
    • Group 2: Diseases requiring long term / lifelong treatment having relatively lower cost of treatment
    • Group 3: Diseases having definitive treatment but are costly and need lifelong therapy.
  • Financial support:
    • Financial support upto Rs. 20 lakhs under the Umbrella Scheme of Rashtriya Arogaya Nidhi shall be provided by the Central Government for treatment of those rare diseases that require a one-time treatment.
    • Government will endeavour to create voluntary crowd funding mechanism by setting up a digital platform for voluntary individual and corporate donors to contribute to the treatment cost of patients of rare diseases.
  • Centres of Excellence (COE) and Nidan Kendras:
    • Centre of Excellence will be premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases.
    • Nidan Kendras will be performing screening, genetic testing and counseling for rare diseases.
  • Development of manpower:
    • State Governments will be requested to create Department of Medical Genetics at least in one medical college in the State for imparting education and increasing awareness amongst health care professionals.
    • Services of Nidan Kendras set up under Department of Biotechnology will also be utilised for training of medical practitioners and staff for screening for rare diseases.
  • Early screening and prevention:
    • The Policy focuses on early screening and prevention through primary and secondary health care infrastructure such as Health and Wellness Centres and District Early Intervention Centres (DEICs) and through counselling for the high-risk parents.
  • National registry:
    • The policy envisages creation of a national hospital-based registry of rare diseases so that adequate data is available for definition of rare diseases and for research and development related to rare diseases within the country.
  • Increased focus of research and development and local production of medicines to lower the cost of treatment for rare diseases.

CRITICISM:

  • Categorization: The policy without clearly defining or setting out the parameters of what would be considered a rare disease, has categorized the rare diseases into three groups.
  • Limited financial support: There is no specific funding allocated for the treatment of a wide variety of Rare Diseases (Group 2 and Group 3 disorders).
  • Inadequate government support: The policy, while advocating for development of researches and local production of medicines, has made little allocation for local innovation, manufacturing, reduction in drug costs, devices and therapies.
  • Absence of sustainable funding: the policy suggested relying on crowdfunding which is not a sustainable solution. In the absence of a sustainable funding support, especially for Group 3 patients, the lives of those patients are at the mercy of willing donors.
  • Lack of clarity: Advocacy groups have pointed out the lack of clarity in the state government's role in providing supportive care for Group 2 diseases.

WAY FORWARD:

  • A genetic and health non-discrimination policy should be strictly enforced in our society at all levels including educational institutions, employment and public facilities to accommodate disabilities of patients with rare diseases.
  • Government should make gene therapies as a priority area of research since most monogenic rare diseases can be treated by potentially correcting the genetic defect by gene therapies.
  • Specialised courses should be developed to overcome the severe dearth of high-quality degree programs in genetic counseling in India.
  • Government should make new born screening mandatory for all treatable diseases across all states. This can greatly improve early detection and prevention of rare diseases of genetic origin.

PRACTICE QUESTION:

Q. What are rare diseases? How can the National Policy for Rare Diseases 2021 help people affected by such diseases in India?