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Rare Diseases Action Plan: Briefing

By March 6, 2024No Comments

Last week marked the release of the Government’s Rare Diseases Action Plan for 2024. The Plan looks at the achievements in tackling rare diseases over the previous year and establishes future goals to enable fundamental change. This is the third iteration of England’s plan, having been published annually since 2022.

Pertaining to the diagnosis of rare diseases, the Government listed the following achievements over the last twelve months:

  • The publication of the initial list of over 200 rare conditions that will be included in the ground-breaking Generation Study, which will pilot whole genome sequencing of newborns in the NHS to enable faster diagnosis of rare conditions
  • Designed and secured funding for a pilot for 2 Syndrome Without a Name (SWAN) clinics in England; one for children and one for adults
  • From 2023, NHS England has funded 8 NHS Genomic Networks of Excellence to transform the way in which genomics is delivered across the country through generating evidence and developing models for adoption within the NHS
  • An NHS Genomics Data and Digital Steering Group has been established to oversee development of the NHS Genomics Data and Digital Framework, to help establish: a digital test directory, a genomic order management, and a unified genomic record
  • Since the publication of the 2023 action plan, the National Genomic Test Directory continues to test for over 3,200 rare diseases
  • NHSE have worked with NIHR to commission research to measure the diagnostic odyssey. When a contract has been negotiated to carry out this task, the rare disease community will be informed

Progress has also been made in researching rare diseases, including the £14 million establishment of a UK Rare Disease Research Platform to accelerate understanding, diagnosis and therapy, while £50 million has been pledged to research motor neurone disease.

The Plan has added a number of actions to be completed in the coming years. Most notable for our sector is the pledge for the MHRA and partners to review the effectiveness of the IDAP pilot in supporting access to medical devices, including diagnostics, for people living with rare disease.

The review of the pilot will include consideration of how IDAP can support rare disease activity going forwards, to ensure rare diseases products are supported from the beginning.

A genomics communications resource is also being implemented to help the workforce communicate with patients sensitively and supportively. This will be targeted at healthcare workers likely to encounter rare disease patients or handle conversations involving genomic information.

On a similar theme, a bespoke genomics training platform will be established to further build expertise among the genomics workforce. The Genomics Training Academy (GTAC) will consist of a central virtual delivery platform and regional pillars.

Ben Kemp