The UK has launched a new framework which aims to raise awareness of rare diseases, speed up diagnosis and improve patient care and treatment.
There are over 7,000 known rare diseases. Although individually rare, these diseases collectively effect millions of people worldwide. The diagnostic odyssey for many patients is long and can also pose a huge burden on families. Rare diseases often start with unusual patterns of common symptoms that can be hard for GPs to recognise. As a result, there are often multiple trips to the doctors to see multiple specialists before a diagnosis can be reached. This can take years and can have a big impact on patients, their families and also the NHS.
The UK Rare Disease Framework
The new UK Rare Disease Framework sets out the vision to improve the lives of more than 3.5 million people with rare diseases in the UK. The new framework sets out 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
This framework, signed and agreed upon by all four nations of the UK, builds upon the successes of the previous strategy. It was also developed in consultations with those living with rare diseases following the National Conversation on Rare Diseases. Baroness Nicola Blackwood launched this survey which specifically 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.
Health Minister, Lord Bethell of Romford, stated:
“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.”
Join us at the Festival of Genomics and Biodata where Baroness Nicola Blackwood (Chair, Genomics England) and Lord Bethell of Romford (Parliamentary Under Secretary of State (Minister for Innovation), UK Department of Health and Social Care) will be delivering keynote presentations. Register now.
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