New strategy to improve diagnosis and treatment of rare diseases

A new framework has been drawn up by the Department of Health and Social Care with the aim of improving the lives of people with rare diseases in the UK. The framework seeks to accelerate diagnosis, increase awareness, and improve treatment and care.

The new strategy—the UK Rare Diseases Framework—has been signed and agreed by all four nations of the UK and builds upon the previous strategy. The framework was developed in consultation with those living with rare diseases following the National Conversation on Rare Diseases.

The new framework sets four priorities across England, Wales, Scotland, and Northern Ireland, including:

  • helping patients get a final diagnosis faster
  • increasing awareness of rare diseases among healthcare professionals
  • achieving better coordination of care
  • improving access to specialist care, treatments, and drugs.

The National Conversation on Rare Diseases survey, launched by Baroness Blackwood, aimed to identify the major challenges faced by those living and working with rare diseases. It provided clear evidence that diagnosis and awareness of rare diseases—and difficulty in accessing specialist care—were challenges consistently reported to be the most impactful by patients, their families, and patient organisations.