Rare disease action plan: progress report 2026

3. Priority 1: Faster Diagnosis

Genomics

The Scottish Government signed up to the Genome UK Shared Commitments for UK-wide implementation 2022-2025 in March 2022. Throughout the term of the Shared Commitments, policy officials, the Chief Scientist Office and Chief Scientific Advisors have met with the UK Office for Life Sciences, and counterparts from Wales and Northern Ireland to share best practice. We continue to work closely with colleagues across the four nations and to look for opportunities for collaboration and partnerships.

The Scottish Strategic Network for Genomic Medicine (SSNGM) was established in 2022 to act as a front door for engagement with stakeholders across Scotland, supporting the development of Scotland’s first genomic medicine strategy and implementing the NHS National Service Division’s Major Service Review recommendations for laboratory reform.

The SSNGM has worked closely with the Scottish Medicines Consortium on improving pathways for new medicines with associated diagnostic testing and will help support the new Horizon Scanning Advisory Board which focuses on new ‘disruptive’ medicines that require significant service planning and adaptation.

The Genomics in Scotland strategy, published in April 2024, aims to expand access to genomic testing and build the foundations needed to allow Scotland to take full advantage of developments in genomic medicine, including data and digital infrastructure and skilled workforce requirements. Alongside this implementation plan is an ongoing laboratory transformation programme, managed by the SSNGM, including options for future service delivery models that can support an expansion to rare condition testing including more comprehensive testing for some indications.

Key progress:

• Gaps quantified in Scottish test directories, with findings used to inform next phase of investment planning.
• Scottish genomic laboratory service benchmarked against NHS Wales and North West England Genomic Laboratory Hub in terms of test activity, running costs, staff whole time equivalent (WTE) and staff mix.
• Work underway on a policy of alignment to testing available elsewhere in the UK and an investment plan to support the sustainable development of genomic testing.
• Establishment of an education and workforce group under the SSNGM, with specific short life working groups looking at genomic counselling training routes and bioinformatics.
• Establish data captured across the NHS genomic laboratories and areas identified for skill mix reprofiling.
• NHS Education Scotland (NES) has mapped over 1000 genomic training and educational resources available within Scotland and through collaborations with UK partners with gaps identified for development as part of wider competency and training programmes.
• Access secured to the UK Genomics Training Academy (GTAC) and engagement with this developing resource promoted to NHS staff across Scotland.
• Work is underway to map the Scottish rare and inherited conditions test directory to the Mondo Disease Ontology.

CARDRISS

Early intervention is crucial to many rare, genetic and congenital conditions. Diagnosing these conditions in newborns, or even via ante-natal screening, means that parents are better informed and have better choices for available treatment and management. Having good data means that prevalence of congenital conditions at birth can be tracked, allowing for better service planning.

In 2018, the Scottish Government commissioned the NHS Information Services Division (ISD) to establish the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS). CARDRISS aims to develop national data and intelligence on congenital and rare conditions, and hence to support prevention, early detection, and effective care of these conditions, leading to improved outcomes. CARDRISS moved into Public Health Scotland (PHS) in 2020.

The CARDRISS register was launched in June 2023 (superseding the Scottish Linked Congenital Condition Dataset (SLiCCD) used by the team in the development stages) and began registering babies with the relevant congenital conditions from pregnancies ending in January 2021 onwards.

The first official statistics using the CARDRISS register (providing information on babies from pregnancies ending in 2021 to 2022) were published in February 2025. An accompanying technical report provided a comparison of the data available from SLiCCD and the CARDRISS register, confirming the register as the gold standard data source on babies with congenital conditions in Scotland. The technical report also provided an assessment of the impact of new national data returns on genetic testing on the registration of babies with chromosomal conditions such as Down's syndrome, confirming the importance of the genetic testing data for complete ascertainment. Updated statistics were published in October 2025, providing data for 2021 to 2023 along with new information on the number and proportion of babies that had their condition first detected during pregnancy.

Joining EUROCAT

In recognition of the quality of the data developed by CARDRISS, SLiCCD was accepted as an associate member of the EUROCAT network in 2021, and the CARDRISS register was accepted as a full member in June 2025. This allows Scotland’s data to be benchmarked against comparable data from other European countries. It also allows Scotland to be included in EUROCAT’s monitoring of trends and clusters of conditions, and for Scotland to contribute to international studies.

Newborn Screening programmes

Spinal Muscular Atrophy:

Scotland will be participating in a UK National Screening Committee (UK NSC) commissioned In-Service Evaluation (ISE) for Spinal Muscular Atrophy (SMA) screening. SMA screening is expected to commence in early 2026 and run for two years, with the possibility of extension should the evidence support it. This two-year evaluation is being funded by the Scottish Government and Novartis.

Data captured from the Scottish evaluation will be combined with data from the concurrent English evaluation to give a stronger evidence base for the UK NSC to consider. This evidence base will support the UK NSC in their decision-making process to decide whether to recommend permanently adopting SMA screening as part of the newborn blood spot screening programme.

Tyrosinaemia

Hereditary tyrosinaemia type 1 (HT1) is a very rare genetically inherited disorder, which prevents the body from breaking down tyrosine which is found in food. This leads to the build-up of toxic levels of tyrosine and other harmful metabolites in the blood. Following a positive recommendation to screen for HT1 by the UK NSC, Scotland implemented screening for this condition through the existing newborn blood spot test on 12 January 2026, ahead of the launch of the new Child Health System.

Expanding CARDRISS’s work to cover pregnancy and newborn screening and associated rare conditions

Pregnancy and newborn screening is important in supporting the early detection and improved outcomes of babies with certain congenital and rare conditions. The CARDRISS register as initially established included babies with conditions covered by structural and chromosomal condition screening programmes, however no national data on the provision of screening was available.

In 2022, the Scottish Government commissioned the CARDRISS team to deliver a national evaluation of changes to pregnancy chromosomal condition screening that were implemented in 2020. To date, as part of the evaluation, we have established new national data returns on the provision of this screening and on genetic diagnostic testing (required to confirm chromosomal conditions) provided during pregnancy or infancy. The first official statistics on pregnancy chromosomal condition screening were published in 2024, with extended statistics published in June 2025.

In 2024, the CARDRISS team received funding from the Chief Scientist Office for a five year research programme to develop national data and reporting on pregnancy screening programmes for infectious diseases and haemoglobinopathies and on newborn bloodspot and hearing screening programmes. This work is progressing and will extend the CARDRISS register to include all babies with the conditions covered by these screening programmes. This will support the continued monitoring and evaluation of the existing screening programmes and the new screening for SMA and tyrosinaemia mentioned above as well as epidemiological studies.

Undiagnosed Conditions Engagement

SWAN clinic

The UK’s first commissioned Syndromes Without A Name (SWAN) clinic ran as a three-year pilot ending in April 2025, and has since been implemented on an ongoing basis. The service was commissioned, with Welsh Government funding, initially by the Welsh Health Specialist Services Committee (WHSSC), and was hosted by Cardiff and Vale University Health Board.

The overarching aim of the SWAN clinic was to improve pathways for people living with rare and undiagnosed conditions in Wales. Its aims were to shorten diagnosis times; provide a diagnosis and/or significant change in clinical management; give hope to those with yet un-named syndromes; improve care coordination, and improve medical knowledge and enable research.

While there are currently no plans to deliver a similar pilot in Scotland, we have been able to draw valuable learning from the SWAN clinic, particularly around the benefits of multidisciplinary team working for more coordinated care and the potential for genetic testing to shorten the time to diagnosis.

VOICES study

The Vasculitis Outcomes In relation to Care Experiences (VOICES) study was carried out from September 2019 to September 2023. Led by Dr Rosemary Hollick, Senior Clinical Lecturer and Rheumatologist at the University of Aberdeen, and funded by Versus Arthritis, the study aimed to understand which key elements of care delivery are associated with health outcomes of prime importance to individuals with systemic vasculitis. This is a group of non-genetic complex autoimmune rare conditions which affect many people and different bodily systems, and can require complex and often expensive care from multiple specialisms. Care has often been fragmented and ill-suited to multi-organ conditions, so learning can be taken from the study and applied to many rare conditions.

Key service components were identified through interviews, surveys and two deeper case studies into six services (three in Scotland, three in England). This found that both professionals and people with systemic vasculitis valued continuity of care, timely response to illness and support for shared decision-making the most.

The study looked at the components of services which facilitated good care, and divided this into three different groups:

• Timely access to services,
• Integrated care delivery,
• Access to the right expertise.

Assessing a group who lived with ANCA (anti-neutrophil cytoplasmic antibody)-associated vasculitis in Scotland, with reference to national datasets, the study found that improved health outcomes were associated with services that had pathways in place for early intervention, specialist nurse-led advice lines, and access to multidisciplinary meetings.

Key service components that led to better outcomes were all characterised by their ability to:

• Overcome professional tensions between specialities,
• Support continuity of care (relational, management and informational),
• Support timely access to expertise,
• Foster a sense of feeling safe.

A film was made about the project and is hosted on the Healthtalk website. The film is drawn from analysis of interviews with 32 people across the UK about their experiences of systemic vasculitis and healthcare.

The VOICES study has offered valuable insights that are applicable across many rare conditions, regardless of whether a specialist service is available. Its findings reinforce the importance of multidisciplinary working, involving people meaningfully in their care and enabling well-co-ordinated care across multiple specialisms. All this aligns closely with our priorities and will continue to guide our work.