Genomic medicine strategy 2024 to 2029

3. Strategic Aims

1. We will develop collaborative multi-disciplinary genomic testing services that include diagnostics, research, innovation, horizon scanning and funding processes. This approach will ensure the timely implementation of new genomic tests and technologies to help improve our understanding of disease and support clinical decision making.

2. We will deliver comprehensive national genomic test directories that enable healthcare professionals to provide the best possible care and treatment for people in Scotland as part of an accredited end-to-end cost-effective clinical service. By working with healthcare professionals we will support the development of national guidance and signposting to support the right test for the right person at the right time.

3. We will offer people in Scotland the best available genomic testing to support early decision making and patient care before and during pregnancy, whilst minimising risk to the mother and baby. Testing will be available, where relevant, to couples at risk of having children affected with severe genetic conditions. Urgent genomic testing in neonatal and paediatric care will be available where it will influence patient management.

4. We will explore and develop streamlined delivery models for genomic testing in partnership with healthcare professionals and service users. We will implement and expand a variety of technologies including, but not limited to, the analysis of circulating tumour DNA (ctDNA), large panel Next Generation Sequencing (NGS), Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) where relevant within both cancer and rare and inherited condition test directories.

5. We will improve clinical management pathways for people in Scotland with cancer and rare and inherited conditions by integrating information about genomic testing and resources, and supporting new clinical practice models across Scotland.

6. We will develop a robust multi-disciplinary whole-system workforce model in collaboration with key stakeholders and service users that informs the investment, capacity, staffing levels and skills required to meet the needs of current and future genomics services.

7. We will support the design of a flexible career framework including opportunities for career development, advancement and collaboration on research, development and innovation. This will be supported by training infrastructure and underpinned by robust education programmes and educational resources to enable a sustainable, flexible and future-proofed healthcare genomic workforce.

8. We will ensure that genomics data is within scope for wider work within the National Digital Strategy to facilitate aligning this data with other healthcare data e.g. digital pathology, radiomics.

9. We will build a secure, scalable digital infrastructure to allow the analysis and storage of large-scale genomic data which will include a genomics variant repository. This will enable the sharing of genomic data across health board boundaries and with researchers. Genomic test results should be reported comprehensively in NHS electronic health records and applications, which should also be available to both primary and secondary care to inform diagnosis, prognosis and treatment planning.

10. We will develop genomics data storage and sharing solutions that are CHI linked, have ‘Once for Scotland’ information governance and standard data models, with appropriate consent including for teaching, audit, research and innovation collaboration.

11. We will develop a long-term genomics data and IT ecosystem that aligns with the National Data Strategy, NHS service, Public Health Scotland (PHS) and research partner requirements and identifies the required workforce to support the efficient management and analysis of NHS genomic data.

12. We will work with key stakeholders to actively promote genomics in order to increase public awareness and understanding of genomic information and raise awareness of the choices and support available. We will also support the provision of information, resources and training packages that improve access to and use of genomic testing by non-specialist clinical staff.

13. We will maximise the use of existing innovation pathways to align genomic research and innovation priorities with horizon scanning and future service requirements and improve opportunities for people to participate in genome-enabled research and clinical trials. By working with academic, NHS and industrial partners we will use an evidence-based approach to help bridge the translational gap for new innovations.