On the 28 February, the Department of Health and Social Care published the England Rare Diseases Action 2025 plan. The plan aims to support people with rare diseases by improving coordination of care, making it easier to get specialised treatment and tackling the challenges in research.

The four new priorities in the plan are summarised here:

Priority 1: Help people get a final diagnosis faster

  • Better understand what causes the often lengthy delay between symptoms first presenting and receiving a diagnosis.
  • Minimising backlogs and the time taken to deliver a genomic test is a key priority for NHS England and the NHS Genomic Laboratory Hubs (GLHs)
  • The NHS Generation Study is now underway, which aims to undertake whole genome screening on up to 100,000 babies and screen for over 200 rare conditions

Priority 2: Increase awareness among healthcare professionals

  • Rare Disease Day 2024 was the first time every NHS trust was empowered to deliver their own activities, as well as centrally led efforts from NHS England, to internally raise awareness of rare diseases. This will be built on for future rare disease days, to continue to help healthcare staff be aware of rare conditions
  • The National Genomics Education Programme is developing a range of training and educational resources, so that rare diseases will be included in UK health professional education and training frameworks
  • Raising awareness is important across all healthcare professionals, and the Genomics Education Programme has undertaken specific work to develop resources for the nursing and midwifery, pharmacy and primary care workforce

Priority 3: Create better coordination of care

  • People living with rare conditions need support from many different parts of the health & social care system. Ensuring that different aspects of care are coordinated is very important and work is now underway to understand how to best make improvements. Findings will be reported in 2026
  • Patients with rare diseases often need to access specialist care that is far away from home. NHS England has published a toolkit for virtual consultations, which is improving the use of videoconference and telephone calls for patients with complex, multi-system rare diseases

Priority 4: Improve access to specialist care, treatment and drugs

  • Only 5% of rare conditions have an effective and approved treatment. Improving access to specialist care, treatment and drugs is vital to save and improve lives
  • NIHR Be Part of Research is an online service that helps members of the public understand research and find research studies to take part in. The service has been looked at to identify what improvements could be made for those living with rare conditions. The findings are now being implemented
  • The Early Access to Medicines Scheme, the Innovative Licensing and Access Pathway and the Innovative Medicines Fund, are access pathways designed to support innovative treatments being available to patients who need them earlier. They are being reviewed to measure the effectiveness of these pathways for rare disease.

You can find the full report here.

If you have any questions on the England Rare Diseases Action 2025 plan and what it may mean for you, contact us on the TSA Support Line.