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."

NHE July/August 21

NHE July/August 21

Prioritising staff wellbeing

NHE’s July/August 2021 edition focuses on some of the key, defining aspects of a successful, supported health service: Mental Health & Workforce. Elsewhere, we take on the incredibly topical Infection Prevention and address the role which Pharma will play in both our NHS and wider health environment.

Videos...

View all videos
National Health Executive Presents

National Health Executive Presents

NHE365 Virtual Festival: Net-Zero NHS

As was outlined by Sir Simon Stevens when the NHS announced their green plans back in 2020, 5,700 lives could be saved each year by improved air quality. Even more could see their overall health improve and be in a position to self-manage their conditions, rather than requiring NHS treatment. Covid-19 has already left the NHS with a sizeable treatment backlog, so anything which can be done to improve patient health and reduce demand is beneficial for all.

Working together, we can help the NHS realise its green ambitions as per the Net-Zero National Health Service report and its ambitious 2040 target. Join us on August 25, 2021 for our Net-Zero NHS event, where we will be joined by health sector leaders and innovators for a day of sharing best practice and networking.

Finger on the Pulse

Ep 14. Health messaging is a science, Professor Craig Jackson

On Episode 14 of NHE's Finger on the Pulse podcast, we're joined by Professor Craig Jackson, Professor of Occupational Health Psychology
Birmingham City University to discuss the coronavirus pandemic, the health messaging around it and how those in power have missed a trick by overlooking the key role of psychology in informing the public of restrictions, measures and the ever-changing situation

More articles...

View all