Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views
Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views
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DOI：
10.1007/s12687-018-0393-1
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发表时间：
2019-04-01
影响因子：
1.9
通讯作者：
Smets, Ellen M. A.
中科院分区：
文献类型：
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作者：
Medendorp, Niki M.;Hillen, Marij A.;Smets, Ellen M. A.
多基因小组检测主要用于改善具有符合多种可能癌症综合征特征的家系的遗传原因识别。这项技术可能会产生不确定性，例如当识别出意义未知的变种时。这项研究探讨了咨询师和被咨询者对不确定性的体验，以及他们如何讨论不确定性和决定多基因小组测试。进行了6个焦点小组，其中包括38名辅导员。12名接受过多基因小组测试遗传咨询的咨询师接受了采访。焦点小组的会议和访谈都是录音和逐字转录的。两名独立编码员对成绩单进行了归纳分析，并对数据进行了审查，以获得一份全面的主题清单。咨询师确定了几个不确定因素，例如发现了意义未知的变量，或检测到了主动发现。最困难的是决定向咨询者传达哪些不确定的信息以及如何传达。提供不确定信息的程度和方式在不同中心和不同辅导员之间有所不同。与延长时间较短的测试相比，咨询师在决策时更重视被咨询者的偏好。被咨询者很难回忆起在遗传咨询期间讨论了哪些不确定性。他们主要报告说，他们经历了对自己和亲属患癌症风险的不确定性。咨询人觉得他们在决定中有发言权。这项研究表明，辅导员需要更多关于是否以及如何传达不确定性的指导。可通过确定应最低限度地讨论哪些信息以进行知情的决策，来防止在传达不确定性时出现不希望的做法差异。
Multigene panel testing is mainly used to improve identification of genetic causes in families with characteristics fitting multiple possible cancer syndromes. This technique may yield uncertainty, for example when variants of unknown significance are identified. This study explores counsellors' and counselees' experiences with uncertainty, and how they discuss uncertainties and decide about multigene panel testing. Six focus groups were conducted including 38 counsellors. Twelve counselees who had received genetic counselling about a multigene panel test were interviewed. The focus group sessions and interviews were audio-recorded and transcribed verbatim. Transcripts were analysed inductively by two independent coders and data were examined to obtain a comprehensive list of themes. Counsellors identified several uncertainties, e.g. finding a variant of unknown significance, or detecting an unsolicited finding. Most difficulty was experienced in deciding what uncertain information to communicate to counselees and how to do so. The extent and manner of providing uncertain information differed between centres and between counsellors. Counsellors attached more value to counselees' preferences in decision making compared to less extended tests. Counselees experienced difficulty in recalling which uncertainties had been discussed during genetic counselling. They primarily reported to have experienced uncertainty about their own and their relatives' risk of developing cancer. Counselees felt they had had a say in the decision. This study showed that counsellors need more guidance on whether and how to convey uncertainty. Undesirable practice variation in the communication of uncertainty may be prevented by determining what information should minimally be discussed to enable informed decision making.