The Minister for Social Care (Helen Whately)
The Government have published England’s second Rare Diseases Action Plan today, on international Rare Disease Day.
Approximately 3.5 million people in the UK are living with one of over 7,000 rare diseases, such as muscular dystrophies or Huntington’s disease. People living with rare diseases often face complex journeys to diagnosis, treatment and care.
Our action plan is part of our continued commitment to improve the lives of those living with rare conditions, as outlined in the 2021 UK Rare Diseases Framework. It follows publication of England’s first Rare Diseases Action Plan in February 2022, and highlights progress made in the past year, as well as setting out 13 new actions for the year ahead.
Key achievements in the last year include:
changes to the UK National Screening Committee to support robust decision making within the constraints of more limited evidence bases, to help improve how decisions are made on newborn screening for rare diseases;
extensive public engagement to support design of a whole genome sequencing research study embedded in the NHS to screen for up to 200 rare genetic conditions in newborns where early intervention could transform outcomes;
identification of over 1,000 new, complex diagnoses for people with rare diseases, via the Genomics England Clinical Research Interface, to inform the most appropriate clinical care;
expansion of innovative digital educational resources on rare diseases, which have had strong uptake by healthcare professionals;
creation and rollout of a toolkit for virtual healthcare consultations, to improve care co-ordination for patients with complex, multi-system rare diseases;
recruitment of over 2,500 new volunteers to the National Institute for Health and Care Research (NIHR) BioResource, to increase scientific understanding of rare diseases and facilitate improved diagnostics and treatments;
completion of innovative research studies, such as the MELODY Covid-19 study, to inform targeted treatment policies for the rare diseases community.
Our second action plan will continue to build on this record, adding significant new commitments against each of the framework priorities, developed in close collaboration with members of the rare disease community. These include:
addressing health inequalities for people living with rare diseases by gathering the evidence needed to include rare diseases in NHS England’s Core20PLUS5 Framework, enabling Integrated Care Systems to develop targeted actions to reduce these inequalities;
changes to commissioning of services for rare diseases within NHS England, to improve co-ordination of pathways for access to specialist care, treatment, drugs, social care, mental health and special educational support for those living with rare diseases;
seeking feedback from the rare disease community on how to improve NIHR’s Be Part of Research platform, to make it easier for people living with rare diseases to participate in clinical research.
These actions are supported by recently announced Government funding for ground-breaking research, including investment of nearly £790 million in 20 NIHR Biomedical Research Centres, and £12 million of funding to support the Medical Research Council (MRC)-NIHR UK Rare Disease Research Platform. This research forms the essential foundations to improve understanding, diagnoses and treatments of rare diseases, translating scientific breakthroughs into clinical advances.
Under the action plan, the millions of people with rare diseases in England will see more efficient and equitable access to care and new treatments introduced. Over the coming year, we will closely monitor the progress of these actions, seeking input from those living with rare diseases to ensure we are measuring the outcomes that matter most. Progress will be reported in 2024, as part of England’s commitment to report annually over the 5-year lifetime of the UK Rare Diseases Framework.
Through this second action plan, we will continue to take steps towards achieving our overarching vision—delivering improvements in diagnosis, awareness, treatment and care, and creating lasting positive change for those living with rare diseases.
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