Supporting decision-making in the context of personalised genetic cancer risk management

Abstract

Carriers of germline genetic cancer predispositions face complex, emotionally laden choices regarding risk management. Lynch syndrome has been associated with unmet informational and decision support needs. However, limited attention has been dedicated to understanding the holistic experiences, values and preferences of carriers making senses of their personalised genetic cancer risks and navigating difficult, interrelated choices across their lifespan. As genetic testing becomes more widespread, scalable approaches such as decision aids should be explored to provide trusted, more personalised information and support.

This thesis is the first research to investigate how to best support Lynch syndrome carriers in three key areas: (i) self-reported decision support needs, (ii) understanding personalised cancer risks and management options and (iii) making decisions aligned with individual values and preferences. Guided by a constructionist worldview and codesign ethos, four studies were conducted using the Person-Based Approach. These studies informed the development of the Lynch Choices decision aid and the findings have wider implications to enhance risk communication in clinical practice.

A systematic literature review suggested a gap in decision aids for Lynch syndrome, limited patient involvement in codesign and insufficient theoretical grounding. A background literature review of decision-making by Lynch syndrome carriers and a patient involvement workshop informed research design and refinement of the decision aid logic model. There was no one best-fit theory to support the complexity of decision-making for carriers. Broader inclusion of multiple theoretical constructs and frameworks was more appropriate to codesign Lynch Choices.

Qualitative interviews explored how carriers made sense of their personalised cancer risks and implications for navigating multiple, interrelated risk management choices across their lifespan. Six themes were: finding balance, living on ‘higher alert’, managing uncertainty, burden of responsibility and lack of joined-up care and support. Think-aloud interviews provided situational observation of how carriers engaged with values-based decision support exercises embedded in Lynch Choices. Three themes were: interpreting gene-specific cancer risks, the importance of language and the emotional impact of decision aids. Finally, a survey evaluated the optimised decision aid, demonstrating its usefulness and clarity amongst a wider cohort of carriers with varied characteristics.

This thesis presents an original contribution to knowledge regarding how to support decision-making in the context of personalised genetic cancer risk management for Lynch syndrome carriers. Key findings highlighted the importance of clear communication about gene-specific cancer risk information, careful wording about evidence-based choices and attention to emotions, values and preferences. The findings provide a framework for development of other codesigned decision aids as complementary tools to support shared decision-making in clinical practice. The findings have broader implications for supporting genetically high-risk populations beyond Lynch syndrome through inclusive, personalised care pathways codesigned with the people who will use them. This thesis produces insights regarding how to better support carriers to make the right choice for them, at the right time, aligned with their understanding, values and life context.

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Identifiers

ORCID for Claire Foster: orcid.org/0000-0002-4703-8378

ORCID for Diana Eccles: orcid.org/0000-0002-9935-3169

ORCID for Katherine Morton: orcid.org/0000-0002-6674-0314

ORCID for Chloe Grimmett: orcid.org/0000-0002-7540-7206

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