The England Rare Diseases Action Plan for 2026 has explored the impact of the three shifts outlined in the 10-Year Plan on diagnosis, awareness, coordination, and access to specialist care for rare diseases, with digital, data, and technology identified as an underpinning theme.
The DHSC notes the transition from analogue systems to digital solutions, as outlined in the 10 Year Health Plan, underscores the critical role of data. The ongoing focus on digital, data and technology remains central to England’s rare diseases action plans, reflecting the broader policy movement towards digital transformation within the NHS.”
Areas where progress has been made over the last five years, the DHSC shares, include the development of the NHS Genomic Medicine Service (GMS), which now delivers genomic testing for more than 7000 rare diseases, and the launch of the Generation Study for whole genome sequencing in newborn babies to identify rare disease early. The introduction of GeNotes is also highlighted, offering a digital platform for educational content and resources on rare diseases for healthcare professionals.
NICE has also set up a technical and project team within its medicines evaluation directorate, which is dedicated to rare diseases in technology appraisal and “highly specialised” tech programmes, offering specialist knowledge in rare disease evaluation and a point of contact for external engagement.
The digitised National Genomic Test Directory is being introduced for clinical use in 2026, with the aim of making it simpler to identify tests to promote access for patients. Electronic order management is being implemented at North Thames NHS GMS to establish a blueprint for national rollout from 2026. The unified genomic record is also being developed to build on this infrastructure to benefit other genomic data sharing pathways, including granting visibility of clinical records across multiple providers. This single source of truth is hoped to inform treatment decisions, allow the connecting of family records, and support research into rare disease.
“A new bioinformatics standardisation workstream is working on enabling cloud-based national collaboration, joining data sets and ensuring innovation and service improvements can easily propagate across the NHS GMS,” the DHSC states. “This will allow genomic variants to be searched within approved data sets across the country, which enables the identification of other cases and collaboration on rare conditions and the identification of cohorts and the linkage to clinical trials – if patients consent.”
On the role of data and SDEs, the DHSC points to improvements made in bringing together fragmented datasets and providing access for the secondary use of health and care data. The West Midlands Secure Data Environment and the Centre for Rare Diseases at University Hospitals Birmingham have collaborated to build a rare disease warehouse, it continues, with 25,000 unique rare disease records made accessible through the SDE for researchers. Its data is also being developed into a dashboard that will sit within the SDE, so researchers can “quickly” assess the prevalence of specific diseases.
The National Congenital Condition and Rare Disease Registration Service brings together national data to help improve identification and understanding of those living with rare diseases in England, with the aim of becoming a national, population-level data resource. Data flows from rare disease specialist providers and genomic and screening laboratories have been improved over the last year, and a Rare Disease Data Set specification has been developed. The DHSC shares that the service is now exploring a self-reporting mechanism, such as a digital solution that could integrate with systems such as the NHS App, to provide clinicians with information on the needs of people with rare diseases at the point of care.
The development of the single patient record will allow for the integration of genomic data with clinical and diagnostic data, according to the DHSC, creating an up-to-date record in support of informed decision making. “The SPR will especially benefit rare disease patients by improving record transparency, reducing the need to repeat medical histories and making it easier to share care plans with healthcare teams,” it adds.
Wider trend: Connecting health data
Great Ormond Street Hospital NHS Foundation Trust is to launch a new partnership with LifeArc, focusing on advancing research into rare diseases in children by connecting data from across the UK. “Rare disease health data is often fragmented and disconnected due to small numbers living with the conditions, which can hold back research,” GOSH explains. The KidsRare initiative sets out to bring health data from different hospitals in the UK together, allowing researchers to generate insights and identify trends, and potentially improving the ability to diagnose and treat rare disease.
NHS Wales has shared that its National Data Resource programme has achieved a milestone, with encounters data from Cardiff and Vale University Health Board linked into the care data repository. This update brings data such as referrals, outpatient appointments, and inpatient admissions together in a structured and standardised way, said to create a more complete picture of patient journeys and support better care coordination. Teams worked with Cardiff and Vale patient management system colleagues to ensure relevant data can be transferred “consistently and correctly” from source systems, using HL7v2 standards and secure processing through integration services to surface in the care data repository.
The Scottish government has shared objectives set out in its Women’s Health Plan for Scotland. A failure to gather data on disease and disease outcomes for women is highlighted as limiting knowledge and impacting health outcomes, with plans to improve women’s health research and data with continued funding through the Women’s Health Research Fund. Data will also be improved by working with health boards to understand and utilise data at a local level, and review data to disaggregate by sex “as a first step toward intersectional data on women’s health”. A minimum dataset for menstrual data on cycle length and bleeding volume will be created and incorporated into EHRs as well as research studies to help ensure it is routinely recorded.
