What would I do? Perspectives on the factors underlying Lynch syndrome genetic testing and results sharing decisions for high‐risk colorectal cancer patients

Abstract

Objective Universal tumour testing for Lynch syndrome (LS) in all incident colorectal cancers (CRCs) and sequential diagnostic genetic testing is cost‐effective in Australia. Because of this, our study aimed to understand factors underlying possible decisions faced by tumour test‐positive CRC patients and their at‐risk relatives throughout the LS diagnosis pathway. Methods Semi‐structured telephone interviews were conducted with 23 participants, using four hypothetical scenarios. Vignette‐guided closed‐ and open‐ended questions asked about LS genetic testing uptake, discussing diagnosis with at‐risk relatives, and risk‐reducing interventions. Personal perspectives on genetic testing were collected pre‐post vignette discussion. Inductive thematic analysis was performed on open‐ended questions. Decisional pathway diagrams were developed to convey factors influencing complex decision‐making processes. Results Participant responses incorporated unfolding scenario information, resulting in three decision themes: (1) wanting to know one's LS status; (2) informing family about LS; (3) navigating risk‐reducing interventions. Across all themes, ‘knowledge’ emerged as a facilitator, and ‘negative emotional experience’ as a barrier. Personal supportive views toward genetic testing increased post‐interview. Conclusions When communicating with tumour test‐positive CRC patients or their relatives about LS genetic testing, providing guidance/resources to inform decisions around risk‐reducing interventions and informing family members is critical. Scenario‐driven interviews provide insight into what individuals might do when facing complex healthcare decisions and could aid informed decision‐making. This approach may be applicable in other conditions, particularly with mainstreaming being increasingly introduced into the genetic context.

‘I Don't Like Uncertainty, I Like to Know’: How and why uveal melanoma patients consent to life expectancy prognostication

“…54,55 Many of our participants found that the process of understanding and making their decision evolved over time rather than a singular event. 18,21 Thus, preference exploration would need to be flexibly conducted as a single event or tailored to differing patient trajectories. Further, several participants experienced their prognostication decisions as stressful, and a framework for concomitant emotional support would need to be established.…”

“…Many of our participants found that the process of understanding and making their decision evolved over time rather than a singular event 18,21 . Thus, preference exploration would need to be flexibly conducted as a single event or tailored to differing patient trajectories.…”

“…Research has focussed on prognostic disclosure, patient awareness, postprognosis decision-making and patient distress, [17][18][19][20] rather than patients' decisions to undergo testing and to receive a prognosis.…”

“…Research has focussed on prognostic disclosure, patient awareness, postprognosis decision‐making and patient distress, 17 , 18 , 19 , 20 rather than patients' decisions to undergo testing and to receive a prognosis. Qualitative studies suggest that people want prognoses to inform procedural choices and to resolve uncertainty, 18 , 21 , 22 often after a medical or family recommendation. 23 Patients also see prognostication as communication with healthcare professionals that, done well, is imbued with caring and emotional support that has value to patients.…”

“…Research has focussed on prognostic disclosure, patient awareness, postprognosis decision‐making and patient distress, 17–20 rather than patients' decisions to undergo testing and to receive a prognosis. Qualitative studies suggest that people want prognoses to inform procedural choices and to resolve uncertainty, 18,21,22 often after a medical or family recommendation 23 .…”