Santerre-Theil Ariane, Bouchard Karine, St-Pierre Dominique, Drolet Anne-Marie, Chiquette Jocelyne, Dorval Michel
Faculté de pharmacie, Université Laval, Quebec, Canada.
Centre des maladies du sein Deschênes-Fabia, Quebec, Canada.
J Cancer Educ. 2018 Jun;33(3):569-575. doi: 10.1007/s13187-016-1127-x.
Although most parents carrying a BRCA1/2 genetic mutation share their test result with their underage children, they report needing support to decide if, when, and how to share risk information and what reactions to expect from their children. We developed a tool to guide parents carrying a BRCA1/2 mutation share their genetic result with underage children. Here, we report on the development of this tool using a qualitative methodology. A tool prototype was developed based on the International Patient Decision Aids Standards Collaboration framework. Content was assessed using feedback from focus groups, individual interviews, and a 12-item reading grid. Participants were nine BRCA1/2 mutation carriers with underage children and three cancer genetics health professionals. Thematic content analysis was conducted on interview transcripts. The tool was developed using an iterative process until saturation of data. An independent advisory committee was involved in all steps of tool development until reaching consensus. Rather than a decision aid per se (to communicate or not), the parents wanted a more comprehensive tool to help them communicate genetic test result to their children. To meet parents' needs, a communication guidance booklet was developed, setting out the pros and cons of communication, steps to prepare sharing the test result, communication tips, and parents' testimonies. This communication tool responds to a significant unmet need faced by parents carrying a genetic predisposition to cancer. Future studies are needed to assess how the information from the parent's genetic test result impacts the child's development, health behaviors, and relationship with the parent.
尽管大多数携带BRCA1/2基因突变的父母会与他们的未成年子女分享检测结果,但他们表示在决定是否、何时以及如何分享风险信息以及预期孩子会有何种反应方面需要支持。我们开发了一种工具,以指导携带BRCA1/2基因突变的父母与未成年子女分享他们的基因检测结果。在此,我们报告使用定性方法开发此工具的过程。基于国际患者决策辅助标准协作框架开发了一个工具原型。使用焦点小组、个人访谈的反馈以及一个12项阅读网格对内容进行了评估。参与者包括九名携带BRCA1/2基因突变且有未成年子女的父母以及三名癌症遗传学健康专业人员。对访谈记录进行了主题内容分析。该工具通过迭代过程进行开发,直至数据饱和。一个独立的咨询委员会参与了工具开发的所有步骤,直至达成共识。父母们想要的不是一个单纯的决策辅助工具(用于决定是否告知),而是一个更全面的工具来帮助他们向孩子传达基因检测结果。为满足父母的需求,我们编写了一本沟通指导手册,列出了沟通的利弊、准备分享检测结果的步骤、沟通技巧以及父母的证词。这种沟通工具回应了携带癌症遗传易感性的父母所面临的一项重大未满足需求。未来需要开展研究,以评估来自父母基因检测结果的信息如何影响孩子的发育、健康行为以及与父母的关系。