Genomic medicine strategy 2024 to 2029

12. Patient and Citizen Trust and Engagement

Patient and citizen trust and engagement

We want to ensure that the people of Scotland are involved and at the centre of their care by empowering individuals and their families to make informed choices around their own genomic information. As genomic medicine develops, we are also committed to exploring how people wish to access genomic services and genomic information.

Background

A recent review of diagnostic programmes identified public support and patient education as important enablers for the take up of genomic testing, emphasising the importance of raising overall awareness of genomics and helping to support its wider use within health services with clear and accessible information and resources.^[19] There is also already a demonstrable public appetite for greater information and insights from genomic data: from the rapidly expanding market for direct-to-consumer (DTC) tests promising predictive or diagnostic information, to recruitment to established research studies across Scotland such as Generation Scotland and the NHS Research Scotland initiative the Scottish Health Register and Biobank (SHARE) which now has over 300,000 people collectively helping to support a range of research projects.^[20]

Where we are now

Working with representatives from patient advocacy groups and charities across Scotland, a Patient Involvement Advisory Group (PIAG) was included within the SSNGM governance structure to guide and advise on patient and public engagement activity and inform the SSNGM’s work going forward.

Where we want to be

We want to develop consistent consent models for genomic medicine services, underpinned by Scotland-wide information governance, that are transparent and easy to understand for patients and their families, and that facilitate coordinated clinical care and support research and innovation activity. We want to work towards agreed and transparent nation-wide information governance that supports robust links between the genomic medicine service, NHS Research Scotland research infrastructure, national registries and PHS.

Development of the Patient Involvement Advisory Group (PIAG)

The PIAG was formed as part of the SSNGM with representatives from professionals from across the genomic medicine community and third sector patient advocacy groups which guide our engagement with people across Scotland on the subject of genomic medicine. Developing this group, and working with them as a key component of the SSNGM, will be key to the delivery of this strategy.

Promoting person-centred care and supporting informed decisions

By working with the SSNGM PIAG, patient advocacy groups, service users and academic centres we will identify examples of best practice care that provide support for individuals and their families to make informed choices. We will explore, where appropriate, the use of novel educational resources using a range of different formats to accommodate different communication needs and preferences.

Recognising the findings of the Good Diagnosis report and the SGP project (Case Study 12.1) we will work to signpost resources developed by the third sector to help patients better understand their options, both before and after testing, and support shared decision making as part of clinical pathways.^[15] In doing so we will ensure that this activity is collaborative and linked with the work of the Rare Disease Implementation Board, the 2023 Mental Health and Wellbeing Strategy and Cancer Strategy action plans and the ongoing NES Psychological Therapies ‘Matrix’ project to highlight the importance of people’s mental and emotional wellbeing as they interact with genomic medicine services and learn about genomic test results.^{12, 21}

Capturing patient experience

As part of our work to improve health outcomes (detailed under Data Returns) we will assess how best to capture and measure people’s experiences to define a baseline understanding for genomic medicine in Scotland that progress can be benchmarked against. As part of this work we will also assess the points within the care and reference pathways for genetic testing and counselling where inequalities are apparent and what the impact of these are.

Identifying barriers to equity of access

We will identify barriers to equity of access to genomic testing on health and racialised inequalities, particularly the use of health data and the recommendations from the Expert Reference Group on COVID-19 and Ethnicity and the findings of the NHS Race and Health Observatory Rapid Evidence Review. ^{22, 23}

We recognise the multiple factors contributing to inequity, including location of services, the cultural acceptability of genomics, socio-economic factors, race and ethnicity, the potential for discrimination or perceptions of discrimination, and evaluation of delivery of genomic services themselves for accessibility. We will also work to develop appropriate information and educational resources for specific groups identified as having inequitable access or with racialised inequalities.

Engaging both patients and citizens in genomic medicine

We will identify best practice examples from across Scotland and from other nations engaged in educational efforts around genomic medicine and develop our engagement in collaboration with different communities. As part of this process we will seek to engage with national initiatives already underway within Scotland to empower citizens around their health and social care data, such as the Digital Front Door project, and work with partners to see how genomic medicine and genomic data could fit within these models.^[24] We will also seek to link genomic medicine with wider national conversations regarding the use of health data in research, new technologies including Artificial Intelligence (AI) and Scotland’s wider Data Strategy for Health and Social Care.^[25]

12.1. Case study: The Scottish Genome Partnership and participant experiences of Whole Genome Sequencing (WGS) in undiagnosed rare conditions

The Scottish Genomes Partnership (SGP) was a pan-Scotland initiative to explore the application of genomics to clinical problems through a collaboration between NHS, academic and industry partners. This included an investigation, in conjunction with Genomic England Ltd’s 100,000 Genomes project, of the extent to which WGS could improve genetic testing and clinical follow-up for people with rare conditions. As part of this project interviews were conducted with a subset of participants to explore what aspects of WGS were most valued for those with undiagnosed rare conditions.^[26]

All aspects of WGS, including the chance of a diagnosis, waiting times for results, impact on reproductive choice, information from tests and contribution to research, were thought to be important with ‘peace of mind’ and ‘closure’ consistently cited with the value of WGS associated with reducing the stress and uncertainty of the diagnostic odyssey. One mother of a patient who had awaited a diagnosis for 29 years said “It was very difficult for people to understand how to relate to Christopher as even we didn’t know ourselves what was wrong. And I, like many mothers – albeit irrationally – always blamed myself, thinking I’d done something wrong during my pregnancy. I’d carried that guilt with me, to get a diagnosis was just wonderful. I was so delighted – I was walking on air.”

What will this mean for people of Scotland?

Engaging with people who are using our services ensures that their lived experience, and what matters most to them, is reflected in our priorities. Promoting person-centred care and resources will help people know what options are available, what questions to ask and how to get the most out of services that are available.