Female doctor discusses a diagnosis with a patient

New UK rare diseases framework launched

The UK Government has launched a new framework to raise awareness of rare diseases, speed up diagnosis and improve care and treatment.

The UK Rare Disease Framework sets out the Government’s vision to improve the lives of more than 3.5 million people with rare disease in the UK – equivalent to 1 in every 17 people.

Signed and agreed by all four nations of the UK, the framework builds upon the successes of the previous strategy and was developed in consultation with those living with rare diseases following the National Conversation on Rare Diseases.

Rare diseases are often characterised as starting through unusual patterns of common symptoms which can be hard for a GP to recognise. Often, this can lead to trips to multiple specialists before a final diagnosis is reached.

Patients with rare diseases often find diagnoses can take years and have significant impacts on themselves, their families and the NHS as discovery efforts are ongoing.

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
  • Better coordination of care
  • Improving access to specialist care, treatments and drugs

Health and Social Care Secretary, Matt Hancock said: “People with rare disease deserve to get the best possible access to care and treatment. Many spend years trying to discover what is wrong so it’s essential we ensure we take every step to accelerate diagnosis and our brilliant health and social care workforce have a thorough understanding of those living with rare diseases.

“The UK Rare Diseases Framework has been developed in close collaboration with people with a lived experience. It will build on the UK’s exceptional strength in life sciences, our genomic capability, and of course the huge benefit of having the NHS, to shape our policies on rare diseases in the years to come and improve the lives of so many people.”

It is currently estimated there are over 7,000 rare diseases with new conditions continually being identified as research advances.

The more well known among them include Huntington’s disease, Ehlers-Danlos syndromes, cystic fibrosis and systemic scleroderma, however there are many more which are not as well known or understood, which is why raising awareness is one of the key priorities of this Framework.

Health Minister Lord Bethell said: “I want the experiences of those living with a rare disease to shape the priorities of government to make sure our policies work for them. We can harness the potential of new technologies, including genomics, to support earlier detection and faster diagnosis of disease, tailor and target treatments

“With such a vast range of rare diseases out there, it is hugely important the rare disease community was at the centre of designing the UK Rare Disease Framework.”

Welcoming the announcement of the framework, President of the Association of the British Pharmaceutical Industry (ABPI) Haseeb Ahmad added: “Today’s strategy sets out a welcome ambition for how people with rare diseases can get a fast diagnosis and access to treatments they desperately need.

"Cutting edge research means that there will be even more exciting, new treatments developed for rare disease patients.

"We look forward to continuing our work in partnership with Governments across all four nations to make the ambition of this framework a reality for people with rare diseases and their families."

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