UK governments sign up to new Rare Disease Framework to speed up diagnosis and improve care

The four UK nations have signed up to a new framework to speed up the diagnosis and treatment of rare diseases such as Huntington’s disease or cystic fibrosis.

It is hope that the new Rare Disease Framework improves the lives of more than 3.5m people with rare diseases in the UK.

The new strategy has been designed in consultation with those living with rare diseases and the framework is intended to speed up diagnosis, increase awareness and improve treatment and care.

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.”

Rare diseases often start through unusual patterns of common symptoms that can be hard for a GP to recognise, and patients and their families can often see multiple specialists before a final diagnosis is reached.

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

There are over 7,000 rare diseases with new conditions continually being identified. 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.

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.”

The National Conversation on Rare Diseases survey, launched by Baroness Blackwood, aimed to identify the major challenges faced by those living and working with rare diseases, and received 6,293 responses, including from over 5,000 patients, families and patient organisations.

Difficulty in accessing specialist care was consistently seen as one of the issues most affecting patients, their families and patient organisations.

Jayne Spink, chief executive of Genetic Alliance UK welcomed the publication of the framework saying: “A framework for rare disease policy is necessary now more than ever.

“We have powerful genomic tools and exciting research breakthroughs on the horizon that are eagerly anticipated by people living with rare conditions. We hope that this framework can build the pathways that will allow these breakthroughs to realise their full potential in the NHS, across the whole of the UK.”