I am delighted that today 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. As the Minister responsible for rare disease policy in England, it is an honour to be able to continue driving forward the important work that has taken place over the last few years through the commitments in the previous strategy, alongside the crucial work and advocacy delivered by organisations such as Genetic Alliance UK and by patients themselves.
It is my firm belief that, in order to truly deliver, the experiences of those living with a rare disease are heard and used to shape the priorities of government. Patient empowerment is particularly important for those affected by rare diseases, when it may often feel like you are struggling alone. That’s why the government ensured the rare disease community was 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.
Many of you may remember, or indeed took part in, the National Conversation on Rare Disease survey, which was launched in October 2019 by my predecessor, Baroness Nicola Blackwood. 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 fantastic 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.
The volume and detail of the survey responses clearly highlighted challenges consistently seen as the most impactful across patients, their families and patient organisations. We have utilised this information to design the Framework around these challenges; outlining four key priorities in the UK Rare Diseases Framework:
- Helping patients get a final diagnosis faster – We want rare disease patients across the UK to 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 – We want healthcare professionals to have an increased awareness of rare diseases, the use of genomic testing and the array of digital tools available to support quicker diagnosis and better patient care.
- Better coordination of care – We know that 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. We want rare disease patients to 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. We want 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.
We were grateful to receive fantastic feedback from our stakeholders to this approach and I truly hope when you read the Framework you feel your views and experiences are genuinely represented too. I am proud of the development of this community-led framework, but I understand it is extremely important we are also focused on the implementation of the priorities, so we can drive real change for rare disease patients and their families.
We will therefore be following the Framework with action plans 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. We will continue to work with the rare disease community throughout development of these plans and know that, as the experts for your conditions, you will have plenty of excellent ideas on how we can achieve the aims set out in the Framework. We will provide details about our future engagement as soon as possible.
Finally, it would be remiss of me to not mention the impact of COVID-19, which I know has brought unprecedented challenges to the healthcare system and affected the lives of rare disease patients and their families, putting an enormous strain on care and mental health. As the world sees light at the end of the tunnel thanks to the effective treatments and vaccines being identified, I hope that things can get easier for you and your families, and this Framework serves as a positive reminder of the government’s continued passion and commitment to improving the lives of those living and working with rare diseases. Please continue to stay safe and I thank you again for your integral role in guiding the new UK Rare Diseases Framework.
Lord Bethell of Romford
Parliamentary Under Secretary of State
Department of Health and Social Care