The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, New South Wales, Australia.
Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
Psychooncology. 2022 Apr;31(4):587-596. doi: 10.1002/pon.5840. Epub 2021 Nov 8.
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.
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.
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.
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.
在所有新发结直肠癌（CRC）中对林奇综合征（LS）进行通用肿瘤检测，并对疑似病例进行序贯诊断性遗传检测，这在澳大利亚具有成本效益。因此，我们的研究旨在了解肿瘤检测阳性 CRC 患者及其 LS 高危亲属在 LS 诊断路径中可能面临的决策背后的因素。
采用半结构式电话访谈的方式对 23 名参与者进行了访谈，使用了四个假设场景。情景引导的封闭式和开放式问题询问了 LS 基因检测的接受情况、与高危亲属讨论诊断以及降低风险的干预措施。在情景讨论前后收集了个人对基因检测的看法。对开放式问题进行了归纳主题分析。绘制决策路径图以传达影响复杂决策过程的因素。
参与者的回答纳入了展开的情景信息，产生了三个决策主题：（1）想了解自己的 LS 状况；（2）告知亲属 LS 情况；（3）选择降低风险的干预措施。在所有主题中，“知识”都是促进因素，而“负面情绪体验”则是障碍因素。个人对基因检测的支持性观点在访谈后有所增加。
在与肿瘤检测阳性的 CRC 患者或其亲属讨论 LS 基因检测时，提供有关降低风险的干预措施和告知家庭成员的决策指南/资源至关重要。情景驱动的访谈提供了个人在面对复杂医疗保健决策时可能采取的措施的见解，并有助于做出知情决策。这种方法可能适用于其他情况，特别是随着基因检测越来越主流化。
