Kohut Kelly, Morton Kate, Turner Lesley, Foster Rebecca, Bancroft Elizabeth K, Burn John, Crosbie Emma J, Dominguez-Valentin Mev, Esplen Mary Jane, Hanson Helen, Hurley Karen, Moller Pål, Ryan Neil, Snape Katie, Eccles Diana, Foster Claire
Centre for Psychosocial Research in Cancer: CentRIC, School of Health Sciences, University of Southampton, Southampton, UK.
South West Thames Centre for Genomics, Clinical Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
J Genet Couns. 2025 Aug;34(4):e70089. doi: 10.1002/jgc4.70089.
Lynch syndrome "carriers" carry a germline pathogenic variant conferring gene-, sex-, and organ-specific increased cancer risks. They are presented with difficult, interrelated choices over their lifetime. This study was part of a larger project to codesign a health intervention, Lynch Choices™ https://canchoose.org.uk to provide an information hub and decision support for carriers, their family members, and clinicians. This study aimed to answer the research question: What content, framing, and design elements of a decision aid for genetic cancer risk management are important to Lynch syndrome carriers? Adult carriers were invited to a think-aloud interview to hear their thoughts about a prototype version of Lynch Choices™ containing values-clarification exercises. The first half of interviews focused on the gynecological risk-reducing surgery and the second half on the aspirin decision aid. Twenty carriers (eight men) were interviewed, half of whom had a personal history of cancer. Iterative refinement of Lynch Choices™ content and design was completed between interviews using a transparent table of changes from the person-based approach. Following the interviews, reflexive thematic analysis was applied to the entire qualitative dataset. Three themes were constructed to guide further optimization and make recommendations for improved cancer risk communication in clinical practice. The three themes were: (1) Interpreting gene-specific cancer risks and "What does it mean to me?"; (2) Words matter: Careful phrasing is important to feel understood; (3) Decision aids: They can help but might trigger emotions. Think-aloud interviews provided in-depth insight into the psychosocial context of carriers. This informed optimization of the decision aid to support engagement and promote shared decision making with healthcare professionals. The learning from this study had broader implications beyond decision aid development, to understanding preferences, needs, and experiences regarding genetic cancer risk communication and decision support.
林奇综合征“携带者”携带种系致病性变异,会增加特定基因、性别和器官的癌症风险。他们在一生中面临着艰难且相互关联的选择。本研究是一个更大项目的一部分,该项目共同设计了一项健康干预措施——林奇选择™(https://canchoose.org.uk),为携带者、其家庭成员和临床医生提供信息中心和决策支持。本研究旨在回答以下研究问题:对于林奇综合征携带者而言,遗传癌症风险管理决策辅助工具的哪些内容、框架和设计元素至关重要?成年携带者被邀请参加出声思维访谈,以听取他们对包含价值观澄清练习的林奇选择™原型版本的看法。访谈的前半部分聚焦于妇科降低风险手术,后半部分聚焦于阿司匹林决策辅助工具。共有20名携带者(8名男性)接受了访谈,其中一半有个人癌症病史。在访谈期间,使用基于人的方法的透明变更表对林奇选择™的内容和设计进行了迭代优化。访谈结束后,对整个定性数据集进行了反思性主题分析。构建了三个主题,以指导进一步优化,并为临床实践中改善癌症风险沟通提出建议。这三个主题分别是:(1)解读特定基因的癌症风险以及“这对我意味着什么?”;(2)措辞很重要:谨慎措辞对于让人感到被理解很重要;(3)决策辅助工具:它们可能会有所帮助,但也可能引发情绪。出声思维访谈深入洞察了携带者的心理社会背景。这为决策辅助工具的优化提供了依据,以支持参与并促进与医疗保健专业人员的共同决策。本研究的经验教训不仅对决策辅助工具的开发具有更广泛的意义,还有助于理解关于遗传癌症风险沟通和决策支持的偏好、需求和经历。
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