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The UK Strategy for Rare Diseases, published in 2013, outlines a UK-wide plan for improving the patient experience of rare disease patients. An implementation plan was developed for England in 2018 to document progress made towards the commitments made within the strategy. The Department of Health and Social Care (DHSC) has recently updated this implementation plan for 2020.

The strategy’s progress over the last year covers 5 main areas:

  1. Empowering those affected by rare diseases
  2. Identifying and preventing rare diseases
  3. Diagnosis and early intervention
  4. Coordination of care
  5. The role of research

Much of the update outlines a continuation of actions from DHSC and its partner organisations rather than new announcements.

One of the most notable developments has been in the field of identifying and preventing rare diseases. Public Health England’s UK National Screening Committee (UK NSC) ran an open call for new screening proposals between October and December 2018. Five met preliminary criteria for further evidence assessment. This included proposals for newborn screening for two rare diseases: Neurofibromatosis type 1 (NF1) and 22q11 Deletion Syndrome. Throughout 2019, UK NSC have reviewed evidence for a number of screening programmes, which are listed in the update, and this work will continue throughout 2020.

You can read the update here and the original implementation strategy here.

For further insight and analysis into how the UK Strategy for Rare Diseases might affect your business, or if you would like to know more about Decideum, please feel free to contact us.

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