Genomics in Scotland strategy: equality impact assessment

The Scope of the EQIA

Genomic testing is used to support diagnosis, clinical management, and treatment decisions across a growing number of clinical specialities, particularly in rare and inherited conditions and cancer. It is also used to support early detection and prevention of disease. A full EQIA was carried out because it potentially impacts on anyone in the Scottish population.

This EQIA is evidenced by desk-based literature searches, outputs of engagement with stakeholders and consultation as part of the development of the strategy. The literature review acted as a process for identifying areas where published evidence in the context of the strategy was missing or limited. We also worked closely with subject matter experts in genomics and issues relating to the equality of the policy, such as data management and access to testing. This EQIA focuses on the impact of the Genomics in Scotland strategy rather than individual uses of genomic data or the impact of individual systems. The strategy is high-level and this EQIA will be reviewed and updated as implementation progresses during the strategy lifetime and more detailed programmes of work are developed.

Key Findings

The evidence we have gathered and assessed as part of this EQIA indicates that the national and strategic approach to genomic medicine set out within the strategy should have a positive impact on patients, families, service users and the workforce who support genomic medicine across Scotland. The aim of this strategy is ultimately to drive awareness and positive behaviour change within both the NHS and wider, in a way that improves services for everyone irrespective of whether they hold any of the protected characteristics or not.

The EQIA and stakeholder engagement has identified considerations that the strategy must take account of as part of implementation to ensure that any potential inequalities are addressed and mitigated where necessary and where possible.

Themes identified include:

Expansion of genomic testing to support diagnosis, access to treatment and care. This is to address growing inequities of access in Scotland as compared to the rest of the UK and comparable EU countries to genomic testing in both rare and inherited conditions and cancer. We also need to evidence access to available testing and identify the barriers that exist not only to access but to the use of genomic information to best improve patient outcomes. Protected characteristics such as sex, age and ethnicity can influence a person’s awareness of genomic testing and their willingness to access services, and this can negatively impact their outcomes. Scotland’s geography also leads to challenges in providing equity of access in rural and island communities. As part of the implementation of strategy we will investigate how genomic services can be deployed in diverse healthcare settings and remote or underserved communities to reduce inequalities. This is linked to cross-cutting ambitions to improve equity of access to clinical trials and research, outside of traditional research centres and irrespective of a person’s location across Scotland.

Awareness and understanding of genomics amongst our workforce can also impact negatively on the use of genomic testing and genomic information. A key ambition of the strategy is to improve genomic literacy and to help our workforce feel supported and more confident about the use of genomics within our healthcare system.

Throughout the strategy we set out ambitions to develop a ‘Once for Scotland’ approach to the delivery of genomic medicine to ensure that testing is available across Scotland as part of end-to-end clinical pathways and through the development of national infrastructure to support new testing methodologies, analysis and interpretation. Information sharing in a safe and secure manner is central to the delivery of this ambition. Genetic data, under the UK’s implementation of the General Data Protection Regulation (GDPR), is listed as ‘special categories of personal data’ and must be kept safe from inappropriate use or theft. We also need, however, to ensure that the right people have access to the right data at the right time to deliver genomic testing across Scotland efficiently, support coordinated care and multidisciplinary team working, and positively improve patient outcomes. Better population level insight will also allow better targeting of information and services to improve the outcomes of those less likely to access services for a range of reasons and those at greatest risk. As we assess delivery options as part of the first-year implementation plan we will work in alignment with the data handling and sharing guidance under development as part of the Data Strategy.

The strategic ambitions around data and digital infrastructure are also core to efforts to ensure that genomic information is embedded within Scotland’s national digital ecosystem and can support research, development, and innovation. This is to ensure that more people benefit from emerging knowledge of the links between genes and disease associations, that we can efficiently translate innovation into service delivery and, through better insights into our data, target our service more effectively to improve health outcomes.