这项研究检查了癌症遗传咨询诊所患者选择特定多基因面板测试的相关因素。我们对 2019 年在马萨诸塞州总医院癌症风险评估中心 (CCRA) 接受测试前遗传咨询的患者及其遗传咨询师进行了调查，以评估人口和临床特征、患者担忧和咨询结果。最终，228 名符合条件的参与者完成了调查，其中 85.1% 的人同意进行基因检测。在选择测试的人中，56.2% 选择了可用的最大的组合类型，即包含可作用和不可作用基因的泛癌组合。白人患者比非白人患者更有可能进行检测。在测试人员中，提供的测试选项数量、参与者的教育程度、年龄和 NCCN 指南状态与患者在四个面板选项之间的选择相关。一些患者的担忧，包括结果对未来癌症筛查和家庭动态的影响，也与测试选择有关。其他几个参与者特征，包括收入、癌症诊断和家庭结构，似乎并不能预测测试选择。我们的结果证实了患者对大型基因组的偏好，并确定了患者特征、关注点和测试选择之间有限的关联。然而，我们注意到，大量参与者没有选择最常选择的测试，并且测试选择很难根据临床和人口统计因素进行预测。我们的结果还进一步证明了癌症基因检测中存在的差异。研究的局限性不允许我们的研究结果推广到所有癌症遗传咨询患者。需要进一步的研究来检验患者在癌症环境中如何以及为何在多种基因测试选项之间进行选择。这项研究是第一个检查患者在全方位多基因组选项之间选择的研究之一。© 2023 国家遗传咨询师协会。

This study examined factors associated with the selection of a specific multi-gene panel test by patients in a cancer genetic counseling clinic. We surveyed patients who received pre-test genetic counseling at the Massachusetts General Hospital Center for Cancer Risk Assessment (CCRA) in 2019 and their genetic counselors to assess demographic and clinical characteristics, patient concerns, and session outcome. Ultimately, 228 eligible participants completed the survey, of whom 85.1% consented to genetic testing. Of those who chose testing, 56.2% selected the largest panel type available, a pan-cancer panel that included both actionable and inactionable genes. White patients were more likely than non-white patients to pursue testing. Among testers, number of testing options offered, participant educational attainment, age, and NCCN Guidelines status were associated with patient choice between four panel options. Some patient concerns, including impact of results on future cancer screening and family dynamics, were also linked to test choice. Several other participant characteristics including income, cancer diagnosis, and family structure did not appear to be predictive of testing choice. Our results confirmed the patient preference for large gene panels and identified a limited number of associations between patient characteristics and concerns and testing choice. We noted however that a significant number of participants did not choose the most commonly selected test, and that test choice is difficult to predict based on clinical and demographic factors. Our results also provide further evidence of well-documented disparities in cancer genetic testing. Study limitations do not allow our findings to be generalized to all cancer genetic counseling patients. Further research is needed to examine how and why patients choose between multiple genetic test options in the cancer setting. This study was one of the first to examine patient choice between a full spectrum of multi-gene panel options.© 2023 National Society of Genetic Counselors.