Genomics in Scotland strategy: island communities impact assessment

Consultation

Within Government

We have engaged internally with other policy teams. Included in these discussions were:

• Chief Scientist Office
• Chief Medical Officer
• Chief Nursing Officer/Allied Health Professionals
• Digital Health and Care
• Pharmacy and Medicines
• National strategies/specialist healthcare
• Diagnostics
• National Screening Programmes
• Population health - pathogen genomics
• Workforce
• Healthcare Science
• Person-centeredness and participation
• Realistic Medicine
• Health Technologies

We have also engaged with governance groups aligned to the Scottish Strategic Network for Genomic Medicine and other stakeholder bodies, including:

• Scottish Cancer Network
• Managed Clinical Network for Children and Young People with Cancer
• NHS Education for Scotland
• Healthcare Improvement Scotland
• Scottish Strategic Network for Diagnostics (SSND)
• Clinical Genetics Forum
• Scottish Pathology Network (SPAN)
• Haematology and Transfusion Scotland (HaTS)
• Scottish Medicines Consortium
• Research Data Scotland

In addition, we have engaged directly with the following Health Boards and groups: National Services Division of NHS National Services Scotland, Public Health Scotland, with territorial Boards through the Scottish Association of Medical Directors, Board Chief Executives, Directors of Pharmacy, HR Directors and Information Governance Leads as well as regional genomic laboratories and clinical genetics services hosted by territorial Boards.

Public consultation

We did not carry out a public consultation as part of the development of this strategy. The focus of the initial one-year implementation plan for the strategy will be on foundational work needed to support key decisions, particularly around digital and data infrastructure. We intend to work closely with the SSNGM Patient Involvement Advisory Group to ensure that public views around core pieces of work are sought appropriately as part of this process.

Business/Third Sector

We have consulted with the Scottish Cancer Coalition (SCC) on the strategy. The SCC is a partnership of third sector organisations dedicated to improving cancer services and outcomes for patients in Scotland. We also consulted with Genetic Alliance UK, an alliance of over 200 charities and support groups across the UK working to improve the lives of people with genetic, rare, and undiagnosed conditions.

We also consulted with industry, via the Association of the British Pharmaceutical Industry (ABPI) and the NHS Research Scotland Industry Partnership Group, and with academic groups from across Scotland.

Data and Evidence

Scotland has four NHS genomic laboratories that work together to deliver two test directories (one for cancer and one for rare and inherited conditions). The Scottish Strategic Network for Genomic Medicine (SSNGM) was established in 2022 to act as a front door for genomics in Scotland and to ensure that new tests and targets are implemented on a national basis as part of end-to-end clinical pathways. Territorial Boards across Scotland have access to the national test directories with samples sent to the designated laboratory via NHS supply routes. A core strategic aim is the expansion of access to genomic testing and the exploration and development of streamlined delivery models to ensure equitable access for people to genomic testing across Scotland and digital infrastructure to ensure that genomic information is available and understood across healthcare services, irrespective of location.

We know from research carried out by the Universities of Aberdeen and Edinburgh, as part of the Orkney Complex Disease Study (ORCADES), that some island communities and those with specific island family heritage can have an increased genetic risk of cancer if they carry certain gene mutations (founder variants). The Scottish rare and inherited conditions test directory currently offers genomic testing for founder variants, but the ORCADES findings highlighted the need for different testing methods and more targeted population screening initiatives.^[2]

Key findings

The National Clinical Strategy for Scotland recognises that the co-ordination and delivery of health and social care in remote and rural areas presents very significant challenges. The small island populations cannot sustain specialist services. However, it highlights that the opportunities presented by digital solutions are important in increasing equitable access to services as well as noting that there is a need to preserve high standards of specialist skills, which means that patients will need, on occasion, to travel for care and treatment.

Genomic testing is already commissioned as a national service with four regional laboratories working to support both the cancer and the rare and inherited conditions test directories. However, the strategy recognises that our laboratories need to be digitally connected not only to one another but as an integral part of the wider national digital ecosystem. This is to ensure not only equitable access to genomic testing but to the genomic information generated and its use, alongside other healthcare data, across services to best support people in Scotland. These ambitions link with wider Scottish Government initiatives:

• Ensuring (alongside the Health and Social Care data strategy) that there is greater access to healthcare data and better insights because of genomic information.
• Working alongside initiatives under the Digital Healthcare Strategy to enhance digital provision for people interacting with health and social care services in Scotland including the development of the national Laboratory Information Management System (LIMS) and the incorporation of digital services such as Near Me video consulting into clinical pathways.
• More equal access to diagnostic and treatment services as well as clinical trials, in conjunction with the Cancer Policy, the Rare Disease Action Plan and the Equity of Access to Commercial Clinical Trials working group.
• Exploring delivery models to ensure equitable access to testing irrespective of location and reducing the need for patients to travel to access trial sites or specialist centres.
• Enhancing targeted screening and learning from the work of research projects such as ORCADES to improve disease prevention and early detection efforts.
• Gauging awareness and uptake of available testing. We know that some communities are less aware of the available genomic testing or less able to take up testing for a variety of reasons.