The Government published England’s fourth Rare Diseases Action Plan on
www.gov.uk on Friday, which was international Rare Disease Day. This Government remain committed to improving the lives of people living with rare diseases, and today’s action plan provides more detail on the steps we will be taking over the next year to meet these four priorities.
The UK Rare Diseases Framework was published in January 2021 following the National Conversation on Rare Diseases, which received nearly 6,300 responses. This helped identify the four priorities of the framework in tackling rare diseases: helping patients get a final diagnosis faster, increasing awareness of rare diseases among healthcare professionals, better co-ordination of care, and improving access to specialist care, treatment and drugs.
The 2025 action plan updates on progress we have made across the system—in the NHS, in health education, in regulation—to address the four priorities of the framework:
On faster diagnosis, the Generation Study has started recruitment to pilot whole genome sequencing of newborns to identify rare diseases before symptoms develop.
On raising awareness in healthcare professionals, specific strategies for increasing awareness of rare diseases in the nursing and midwifery, pharmacy and primary care workforce have been published.
On better co-ordination of care, research is now under way on how to improve better co-ordination of care in the NHS.
On improved access to specialist care, treatment and drugs, we have worked with industry, clinicians and patients to understand the challenges and opportunities of early access pathways for rare disease therapies.
The action plan also commits to three new actions for the year ahead. This will expedite improvements in co-ordination of care to patients, and looks ahead to enabling new therapies to reach people who need them as quickly as possible and maintaining the UK’s position as a leader in life sciences:
NHS England is incentivising providers to run multi-system “carousel” clinics to enable patients to see multiple specialists on the same day, reducing the logistical burden on people living with rare diseases and their families.
The new clinical trial legislation laid last year will enable the MHRA to address some of the challenges in research for new rare disease therapies.
NHS England will explore the development of an operational framework for service delivery of individualised, or “n-of-1”, gene therapies to patients within the NHS. These are truly cutting-edge therapies that have the potential to change and save lives.
Centring the voices of those with lived experience remains an underpinning principle of the approach to rare diseases. The advocacy and expertise of the patient organisations, patients and families, has raised the awareness of rare diseases and driven progress. The action plan will be monitored for progress and outcomes during 2025-26.
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