The United Kingdom Releases a Rare Disease Framework

Rare Daily Staff

The United Kingdom released a Rare Disease Framework, a strategy intended to accelerate the diagnosis and improve the treatment of the estimated 3.5 million people with rare diseases in the United Kingdom.

The Framework, signed and agreed on by all four nations of the United Kingdom, builds on the previous strategy and was developed in consultation with people living with rare diseases. It follows The National Conversation on Rare Diseases survey, launched by Baroness Blackwood, aimed at identifying the major challenges faced by those living and working with rare diseases. It received responses from more than 5,000 patients, families, and patient organizations.

The survey provided clear evidence that the diagnosis and awareness of rare diseases, and difficulty in accessing specialist care were some of the challenges consistently seen as the most impactful across patients, their families, and patient organizations.

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

“The U.K. Rare Diseases Framework has been developed in close collaboration with people with a lived experience,” said U.K. Health and Social Care Secretary Matt Hancock. “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.”

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

“A framework for rare disease policy is necessary now more than ever,” said Jayne Spink, CEO of Genetic Alliance UK. “We have powerful genomic tools and exciting research breakthroughs on the horizon that are eagerly anticipated by people living with rare conditions.”