The latest progress report from NHS England on its Rare Disease Action Plan, highlights progress against its four priorities of faster diagnosis, increased awareness, better co-ordination of care, and improved access, as well as introducing three new actions, and outlining digital and data work streams.
In its final year, the plan introduces three new actions, to establish a new model for clinics for multi-system disorders, improve rare disease clinical research, and support for “individualised therapies, specifically designed to a unique disease-causing variation in an individual’s DNA, addressing the root cause of the condition”.
The actions for 2025 highlight support for the NHS Genomic Medicine Service to focus on earlier and more precise diagnosis, with three digital work streams identified. The first, digitalising the National Genomic Test Directory by introducing “a suite of cloud-hosted digital services and a published directory of commissioned genomic tests”. The second, an electronic test order management system will see a “new central messaging infrastructure and standardised dataset, to enable interoperability between systems and organisations involved in genomic testing”. The third, a work stream to support a unified genomic record, an individual patient record that is integrated into existing NHS digital systems.
The report notes progress for the introduction of the GeNotes app, as a digital education resource helping to increase awareness of rare diseases among healthcare professionals, and the implementation of NHSE’s toolkit for virtual consultations is said to “improve the safety and efficiency of already established virtual and phone clinics”.
For the Innovative Devices Access Pathway pilot, the report notes the programme is being reviewed for effectiveness for rare diseases. Here, it states that it did not receive applications focused on rare diseases, adding “while none of the selected technologies are directly relevant to rare diseases, the evaluation of the pilot will consider what action can be taken to implement these learnings into any future programme”.
On the future direction of the UK Rare Diseases Framework as it enters its final year, six key focus areas are outlined, which include: supporting people with undiagnosed conditions, supporting those with non-genetic rare conditions, co-ordination of care, mental health support, improving clinical research delivery for rare diseases, maximising registries and monitoring and evaluation. Learn more about the Rare Disease Action Plan 2025 update.
Recent stories and announcements from the DHSC
The DHSC announced the direct ministerial appointment of Tom Kibasi, joint chair of three mental health and community NHS trusts. The appointment will see Kibasi support the department to develop ideas for a “better health service”, into the successful delivery of the 10 Year Health Plan.
In October 2024, the DHSC launched an open call for comment on ideas for change within health and care as part of the 10 Year Health Plan. Over 11,000 ideas have been put forward, with the most liked suggestion focusing on the accessibility of digital records.
The DHSC also proposed a new requirement for general practice to ensure patients can contact their surgery through electronic communications during core hours. This was also part of the transition from analogue to digital, with the proposal coming as part of the new GP contract for 2025 – 2026.
