UK forms new strategy to improve rare disease diagnosis and treatment

UK forms new strategy to improve rare disease diagnosis and treatment
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The UK has created a new framework to accelerate the diagnosis of rare diseases, as well as improving treatment and raising awareness.

More than 3.5 million people living with a rare disease, such as Huntington’s disease or cystic fibrosis, are set to benefit from the new UK Rare Disease Framework, which aims to speed up diagnosis, increase awareness, and improve treatment and care. The strategy has been developed based on the views and experiences of these patients following the National Conversation on Rare Diseases.

The framework has been signed by all four nations and builds on the success of the previous rare disease strategy.

Improving lives for patients

The journey to diagnosis for people living with a rare disease can often take many years due to patterns of common symptoms that are hard to recognise. It is estimated there are over 7,000 rare diseases with new conditions being identified as research advances. The more well known among them include diseases such as Huntington’s disease, Ehlers Danlos syndrome, cystic fibrosis, and systemic scleroderma. There are many more, however, which are not as well known or understood.

The new framework sets four priorities including 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, treatments, and drugs, to help ease the impact rare diseases can have on patients and families.

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.”

Access to care

The National Conversation on Rare Diseases survey was launched by Baroness Blackwood and aimed to identify the major challenges faced by those living and working with rare diseases. The survey received an amazing 6,293 responses, including from over 5,000 patients, families, and patient organisations who provided clear evidence that diagnosis, awareness of rare diseases, and difficulty in accessing specialist care were some of the challenges consistently seen as the most impactful.

Health Minister, Lord Bethell, added: “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.”

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