On the 9th Jan 2021, the Department of Health and Social Care has published the UK Rare Diseases Framework, which replaces the previous UK Strategy for Rare Diseases published in 2013.
You may recall that back in Sept 2019, we held our RAREsummit event at the Wellcome Genome Campus in Cambridge. At this event Baroness Nicola Blackwood, then government minister overseeing the new framework development, delivered a talk and called for the rare disease community to take part in the ‘National Conversation’ a survey ensuring patient and advocates were not only at the centre of designing the UK Rare Disease Framework, but also in shaping the direction for rare disease policy more broadly in the UK moving forward. You can watch her presentation here.
The survey aimed to identify the major challenges faced by those living and working with rare diseases, and received an amazing 6,293 responses, including from over 5,000 patients, families and patient organisations. This impressive response rate has enabled the UK government and the devolved administrations of Scotland, Wales and Northern Ireland to better understand what challenges were faced consistently across the community, and where differences lay between respondent groups. This information has guided the design of the Rare Diseases Framework around four key priorities:
Helping patients get a final diagnosis faster
and for research into previously unrecognised conditions to help identify and diagnose new rare diseases.
Increasing awareness of rare diseases among healthcare professionals
and increase the use of genomic testing and the array of digital tools available to support quicker diagnosis and better patient care.
Improving coordination of care
Living with a rare disease often means having to face appointments with multiple different specialists across different hospitals, all in addition to accessing services such as GPs and social care. All rare disease patients should experience better coordination of care throughout their patient journey.
Improving access to specialist care, treatments and drugs
Very few rare diseases have established treatments, but where they do exist, access to these often-innovative therapies can prove difficult. The framework hopes to improve access to specialist care, treatments and drugs for rare disease patients across the UK.
The survey also identified several cross-cutting issues, which have also been included in the Framework as underlying themes. These are:
Continuing to champion the patient voice;
Pioneering research, so that we can harness the potential of cutting-edge science and translate outcomes into frontline clinical care.
Using digital tools, data and technology to improve efficiency, patient experience and research.
Maximising collaboration with the rare disease community in the UK and across the world to drive better outcomes for patients.
Ensuring alignment with wider policy so that rare disease issues are recognised across government.
Now that the framework is published, the focus will turn to develop the action plans to address these priorities, so we can drive real change for rare disease patients and their families. Action plans will be drawn up from each of the four UK nations, which will outline how each nation will deliver against the priorities and underlying themes in their respective health systems. It will be vital that the rare disease community is consulted, involved and listened to throughout development of these plans.
During the cross-sector hackathon as part of our RAREsummit19, teams thrashed out ideas for how they felt we might deliver on the priority themes in the Framework. We created a report to showcase some of these innovative solutions which can be viewed here. We’ll be sharing these ideas with the Dept for Health and Social Care and the teams involved in the action plan development.
Lord Bethell of Romford, Parliamentary Under Secretary of State for the Department of Health and Social Care, now leads on the Rare Disease Framework as the successor to Nicola Blackwood.