The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboringBRCA1orBRCA2pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first step, narrative data from 68 women withBRCA1/BRCA2pathogenic variants and clinician feedback informed a culturally sensitive adaptation of the content consistent with current risk management guidelines. In the second step, the Information Technology team developed the functions and the interface of the web application that will host the intervention. In the third step, a new sample of 18 women from families harboringBRCA1/BRCA2pathogenic variants tested the acceptability and usability of the intervention using “think-aloud” interviews and a questionnaire. Participants expressed high levels of satisfaction with the intervention. They provided positive feedback for the information regarding active coping, strategies to enhance family communication, interactive elements, and illustrative stories. They reported that the information was useful and the web application was easy to navigate. Findings suggest that the Family Gene Toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be tested in a subsequent randomized trial.
本研究对家庭基因工具包进行了适应性调整，并针对携带BRCA1或BRCA2致病性变异的瑞士和韩国家庭开发了定制化网络应用程序，旨在支持基因检测结果的家族沟通，并促进高危亲属的级联基因检测。第一阶段，通过收集68名携带BRCA1/BRCA2致病性变异女性的叙事数据及临床医生反馈，结合现行风险管理指南完成了文化敏感性的内容适配。第二阶段，技术团队开发了承载该干预措施的网络应用程序功能模块与交互界面。第三阶段，新招募的18名来自BRCA1/BRCA2致病性变异家庭的女性通过"有声思维"访谈和问卷调查对干预方案的可接受性与可用性进行测试。参与者对干预方案表现出高度满意度，对积极应对策略、增强家族沟通的方法、交互式设计及案例故事等内容给予积极评价，认为信息实用性强且网络应用程序易于操作。研究结果表明家庭基因工具包设计精良，有望提高高危亲属的级联检测率，其有效性将在后续随机试验中进一步验证。
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