Little is known about what uncertainties patients experience after being identified to carry a pathogenic variant in a moderate-risk cancer gene as a result of undergoing multigene panel testing for cancer susceptibility. Data regarding cancer risk estimates and effectiveness of risk management strategies for these variants continues to evolve, which has the potential to evoke uncertainty. Acknowledging uncertainty during pre- and post-test discussions is imperative to helping individuals to adapt to their results. A better understanding of this population’s experience of uncertainty is needed to facilitate such discussions and is the aim of the current study. Semi-structured interviews (30–60 min in length), informed by Han and colleagues’ taxonomy of uncertainty in clinical genomic sequencing, were conducted to assess motivations to pursue genetic testing, areas of perceived uncertainty, and strategies for managing uncertainty among 20 carriers of pathogenic variants in two moderate-risk genes, ATM and CHEK2. We found that participants pursue genetic testing with the expectation that results will clarify cancer risks and approaches to management. Participants experience uncertainties aligning with Han’s taxonomy relating to the ambiguity of specific cancer risk estimates and effectiveness of certain risk management strategies. These uncertainties influenced decisions around the uptake of risk management strategies, which were additionally impacted by clinicians’ uncertainty towards such strategies. Participants employ a variety of uncertainty management approaches to cope with their anxieties. Clinicians may wish to use these findings to facilitate patient adaptation to the implications of multigene panel testing for cancer susceptibility during both pre- and post-test counseling sessions.

由于接受多基因面板癌症易感性检测，患者在被鉴定为携带中度风险癌症基因的致病性变异后所经历的不确定性知之甚少。有关这些变体的癌症风险估计和风险管理策略有效性的数据不断发展，这有可能引发不确定性。在测试前和测试后的讨论中承认不确定性对于帮助个人适应他们的结果是必不可少的。需要更好地了解这一人群的不确定性体验，以促进此类讨论，这也是当前研究的目的。半结构化访谈（长度为 30-60 分钟），根据 Han 及其同事对临床基因组测序不确定性的分类学的信息，ATM和CHEK2. 我们发现参与者进行基因检测时期望结果将阐明癌症风险和管理方法。参与者会遇到与 Han 分类法相一致的不确定性，这些不确定性与特定癌症风险估计的模糊性和某些风险管理策略的有效性有关。这些不确定性影响了有关采用风险管理策略的决策，而这些决策还受到临床医生对此类策略的不确定性的影响。参与者采用各种不确定性管理方法来应对他们的焦虑。临床医生可能希望使用这些发现来促进患者在测试前和测试后咨询期间适应多基因面板测试对癌症易感性的影响。