UK strategy for rare diseases: 2020 update published

The 2020 update to the Government’s strategy for rare diseases has been published, explaining progress made to date and the priorities for the coming year.

In the update, the Department of Health and Social Care (DHSC) explains the successes in each of the Themes of the plan. These are:

  • Theme 1- Empowering Those Affected by Rare Diseases
  • Theme 2 – Identifying and Preventing Rare Diseases
  • Theme 3 – Diagnosis and Early Intervention
  • Theme 4 – Coordination of Care
  • Theme 5 – The Role of Research in Rare Diseases

Updates are given on all Themes, with Themes 2 and 3 showing promising activity:

“PHE’s UK National Screening Committee (UK NSC) ran an open call for new screening proposals between October and December 2018 and received 10 submissions of which five met preliminary criteria for further evidence assessment by UK NSC. This included proposals for newborn screening for two rare diseases: Neurofibromatosis type 1 (NF1) and 22q11 Deletion Syndrome… The annual call for 2019/20 screening proposals was open between October and 2020 Update to the Implementation Plan for England December 2019. Members of UK NSC met in January 2020 to discuss the submissions with a decision about whether proposals will be taken forward into evidence review expected by June 2020…

“Under the UK Rare Diseases Policy Board, DHSC established a Task and Finish group in early 2017, chaired by Dr Trevor Cole (Consultant Clinical Geneticist at Birmingham Women’s and Children’s NHS Foundation Trust), with the aim to further explore and propose improvements to the collection of data to measure the time travelled in the diagnostic pathway for patients with rare diseases. Three conditions, ANCA-related vasculitis, Bardet Biedl syndrome and tuberous sclerosis complex, are being used as exemplars to explore this. In 2019, the group continued their efforts in examining and defining the data for patients with continuing support from NHS Digital. The Task and Finish group’s report will be published in 2020.”

Extensive sets of actions under each Theme are identified for 2020, continuing the progress made to date.

Read the full update here and the original strategy in full here.

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Published 26. February 2020 in News, News UK, Press Release