Genomics in Scotland strategy: Fairer Scotland Duty summary

Summary of aims and expected outcomes of strategy, proposal, programme or policy

Our vision is to establish an equitable, person-centred and rights-based genomic medicine service to improve health outcomes for people in Scotland and better enable us to use genomic information to support disease prevention and early detection. The strategy aims to improve access to genomic testing and build strong foundations, including data and digital infrastructure and workforce, to allow Scotland to take full advantage of developments in genomic medicine.

The initial one-year implementation plan will focus on the foundational and preparatory work needed, in collaboration with stakeholders across Scotland, to ensure that investment and partnership working is targeted for maximum impact as part of the ongoing recovery and renewal of our health services. This will take place in alignment with an ongoing transformation programme across Scotland’s genomic laboratories.

Strategy implementation will thereafter be on the development of new approaches and systems to support genomic medicine in Scotland, taking advantage of innovation and digital opportunities to expand genomic testing and facilitate the use of genomic information across our healthcare system.

Throughout the term of the current strategy there will be a focus on rare and inherited conditions and cancer. These represent the areas of most acute need in Scotland. However, as genomic information is ‘mainstreamed’ and applied to other clinical specialisms within the NHS then the impact of infrastructure, service and workforce transformation carried out under the lifetime of this strategy will impact on the wider healthcare system and those who interact with it across Scotland. Partnership working will be an important part of strategy delivery, especially given the fast-paced nature of genomic medicine as a discipline, and we are looking to work more effectively with academia, industry and the third sector to achieve strategy objectives.

Genomic medicine has the potential to improve patient outcomes by generating faster or more comprehensive diagnostic information, facilitating access to appropriate treatment and support and prevention of disease or detection of disease at an earlier stage. While we can work to provide more equitable access to genomic testing and services and encourage more equitable representation in genomic research and reference data, these efforts must also be embedded into wider social, economic and political efforts to reduce disparities in health outcomes in Scotland overall.

The main issue, identified within the strategy, is the growing disparity between the genomic testing available in Scotland as compared to the rest of the UK. There is an ongoing programme carried out under the auspices of the Scottish Strategic Network for Genomic Medicine to ‘map and gap’ the test directories within the UK to evidence this gap. A key policy decision will be whether to align with the NHS England test directory (as Wales and Northern Ireland have done) or continue to maintain a separate directory. This latter position will be difficult to defend if services in Scotland continue to fall behind those offered elsewhere in the UK and other comparable developed countries.

Genomic testing is commissioned as a national service with four regional laboratories working to support both the Scottish cancer and the rare and inherited conditions test directories. However, the strategy recognises that the 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 the ability of services across Scotland to use this information, alongside other healthcare data, to best support people. This is particularly important in relation to the development of national screening and surveillance efforts for people identified as being at an increased genetic risk of diseases such as cancer.

At present, testing is clinic-focused and dependent on taking blood or tissue samples. While this will remain the most appropriate way of taking samples for many indications, other methods should be explored if it improves access to genomic testing, the quality of genomic testing or the number of people who would benefit.

We also need to look at patient and family experiences across clinical pathways to identify what the barriers are in terms of awareness of genomic testing, take-up of available testing and access to genetic counselling, support services and the genomic information generated from testing. There is growing evidence from organisations such as the NHS Race and Health Observatory and Public Health Scotland about the multiple and varied barriers faced by minority ethnic groups to participation in medical research and COVID-19 and influenza vaccine take-up. Work is underway to explore barriers to genomic testing specifically that can help inform the implementation of the strategy and we, in collaboration with the Scottish Strategic Network for Genomic Medicine’s Patient Involvement Advisory Group, are committed to exploring these barriers within Scotland to inform the implementation of the strategy.