National Policy for Rare Diseases, 2021

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 programs to prevent births of children with rare diseases, and within the constraints on resources and competing health care priorities, enable access to affordable health care to patients of rare diseases.

WHO defines rare disease as a debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.

Issues & Challenges

  • Varying definitions: 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, and lack of adequate screening and diagnostic facilities.
  • Research and development: Relatively little known about the pathophysiology or the natural history of rare diseases making R&D for most rare diseases a challenge.
  • Challenges in Treatment:
  • Unavailability of treatment Also about 95% of rare diseases have no approved treatment
  • The prohibitive cost of treatment, as the number of persons suffering from rare diseases is small, making an insignificant market for drug manufacturers.

Way Forward

  • The Central Government will work with the State governments to develop manpower and build the capacity of health professionals at various levels.
  • Develop Standard Operating Protocols to be used at various levels of care for patients with rare diseases to improve early diagnosis, better care coordination and quality of life.
  • Prevention at different levels i.e., from screening of rare diseases to provision of better care and medical rehabilitation.
  • Centers of Excellence (under Rare Disease Policy and Nidan Kendras) with facilities for diagnosis, prevention and treatment of rare diseases.
  • Increasing affordability of drugs related to rare diseases
  • The field of rare diseases is complex and heterogeneous also the field is still at a nascent stage posing varied challenges.

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.

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