Cascade testing for familial cancer syndromes has historically been difficult to execute. As part of a facilitated cascade testing pathway, we evaluated barriers to completion of cascade testing. Our previously published study evaluated a facilitated cascade testing pathway whereby a genetics team facilitated at-risk relative (ARR) cascade testing through telephone genetic counseling and mailed saliva kit testing. This follow-up study evaluated barriers to completion of cascade genetic testing through six-month follow-up telephone interviews. Probands identified 114 ARRs, of whom 97 were successfully contacted by telephone. Among those contacted, 83 (86%) reported interest in genetic testing and 14 (14%) declined. Among those reporting interest in testing, 71% (69/83) completed testing. Follow-up telephone interviews revealed that 14 ARRs did not complete testing despite reporting interest for the following reasons: concern about genetic discrimination, fear of a positive result and belief that the pathogenic variant was not relevant to his/her health. Five ARRs reported that they remained interested in testing and the telephone call prompted completion of testing. Even when facilitated by a medical team with prioritization of relative convenience, significant barriers to cascade testing ARRs for hereditary breast and ovarian cancer syndrome persist due to concern about genetic discrimination, cost, and fear of positive test results.

家族性癌症综合征的级联测试历来难以执行。作为便利级联测试途径的一部分，我们评估了完成级联测试的障碍。我们之前发表的研究评估了一种便利的级联测试途径，遗传学团队通过电话遗传咨询和邮寄唾液试剂盒测试促进了高危亲属 (ARR) 级联测试。这项后续研究通过六个月的后续电话采访评估了完成级联基因检测的障碍。先证者确定了 114 个 ARR，其中 97 个通过电话成功联系。在联系的人中，83 人 (86%) 表示对基因检测感兴趣，14 人 (14%) 拒绝了。在那些报告对测试感兴趣的人中，71% (69/83) 完成了测试。后续电话采访显示，尽管出于以下原因报告了兴趣，但仍有 14 名 ARR 未完成检测：担心基因歧视、害怕阳性结果以及认为致病变异与其健康无关。五个 ARR 报告说他们仍然对测试感兴趣并且电话提示完成了测试。即使在优先考虑相对便利的医疗团队的推动下，由于对遗传歧视、成本和对阳性测试结果的恐惧的担忧，对遗传性乳腺癌和卵巢癌综合征进行级联测试 ARR 的重大障碍仍然存在。害怕阳性结果并相信致病变异与他/她的健康无关。五个 ARR 报告说他们仍然对测试感兴趣并且电话提示完成了测试。即使在优先考虑相对便利的医疗团队的推动下，由于对遗传歧视、成本和对阳性测试结果的恐惧的担忧，对遗传性乳腺癌和卵巢癌综合征进行级联测试 ARR 的重大障碍仍然存在。害怕阳性结果并相信致病变异与他/她的健康无关。五个 ARR 报告说他们仍然对测试感兴趣并且电话提示完成了测试。即使在优先考虑相对便利的医疗团队的推动下，由于对遗传歧视、成本和对阳性测试结果的恐惧的担忧，对遗传性乳腺癌和卵巢癌综合征进行级联测试 ARR 的重大障碍仍然存在。