New strategy to improve rare disease care

A NEW strategy to improve the diagnosis and treatment of rare diseases has been launched by the government.

The UK Rare Diseases Framework aims to help the millions of people living with rare conditions such as Huntington’s, cystic fibrosis and Ehlers Danlos.

There are 3.5 million people in the UK with a rare disease, the equivalent of one in 17 people. There is currently estimated to be more than 7,000 rare diseases with new conditions continually being identified as research advances. Research has shown that many people have to wait for years to secure a diagnosis.

The framework, agreed by all four UK nations, was developed in consultation with those living with rare diseases. It sets out four key priorities:

• 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 four key priorities are also supported by further "underpinning themes":

• patient voice
• national and international collaboration
• pioneering research
• digital, data and technology
• wider policy alignment.

Health and social care secretary Matt Hancock said: “[The framework] 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.”

Jayne Spink, CEO of Genetic Alliance UK, added: “We welcome the publication of this framework and look forward to working with the four nations of the UK to develop action plans to deliver its aims.”

It is hoped new technologies such as genomics can be used to support earlier detection and faster diagnosis, as well as to tailor and target treatments.