Georgetown Lombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia, USA.
Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research, Georgetown University, Washington, District of Columbia, USA.
Public Health Genomics. 2024;27(1):100-109. doi: 10.1159/000540466. Epub 2024 Aug 22.
When a pathogenic BRCA1 or BRCA2 mutation is identified in a family, cascade genetic testing of family members is recommended since the results may inform screening or treatment decisions in men and women. However, rates of cascade testing are low, and men are considerably less likely than women to pursue cascade testing. To facilitate cascade testing in men, we designed a Web-based genetic education tool that addressed barriers to cascade testing, was individually tailored, delivered proactively, and could be used in lieu of pretest genetic counseling to streamline the cascade testing process.
We randomized 63 untested men from hereditary cancer families to Web-based genetic education (WGE) versus enhanced usual care (EUC). WGE participants were provided access to a genetic education website after which they could accept or decline genetic testing or opt for pretest genetic counseling. EUC participants received an informational brochure and a letter informing them of their eligibility for genetic testing and recommending they schedule genetic counseling. The primary outcome was the uptake of genetic testing.
Men in the WGE group were more likely to complete genetic counseling and/or genetic testing (43% vs. 12.1%; χ2 [n = 63, df = 1] = 7.77, p = 0.005). WGE participants were also more likely to complete genetic testing compared to men in the EUC group (30% vs. 9.1%; χ2 [n = 63, df = 1] = 4.46, p = 0.03).
This preliminary trial suggests that a streamlined approach to genetic testing using proactively delivered genetic education may reduce barriers to cascade testing for at-risk men, leading to increased uptake. These results should be interpreted cautiously given the select sample and high rate of non-response.
当家族中发现致病性 BRCA1 或 BRCA2 突变时，建议对家庭成员进行级联遗传检测，因为检测结果可能会影响男性和女性的筛查或治疗决策。然而，级联检测的比例较低，男性进行级联检测的可能性明显低于女性。为了促进男性进行级联检测，我们设计了一种基于网络的遗传教育工具，旨在解决级联检测的障碍，具有个体针对性，主动提供，并可替代预测试遗传咨询，以简化级联检测过程。
我们将 63 名未接受测试的遗传性癌症家族男性随机分为基于网络的遗传教育（WGE）组和增强型常规护理（EUC）组。WGE 组参与者在获得遗传教育网站的访问权限后，可以选择接受或拒绝遗传检测，或者选择预测试遗传咨询。EUC 组参与者收到一份信息手册和一封信，告知他们有资格进行遗传检测，并建议他们预约遗传咨询。主要结局是遗传检测的接受率。
WGE 组男性更有可能完成遗传咨询和/或遗传检测（43%比 12.1%；χ2[n=63，df=1]=7.77，p=0.005）。与 EUC 组相比，WGE 组的男性也更有可能完成遗传检测（30%比 9.1%；χ2[n=63，df=1]=4.46，p=0.03）。
这项初步试验表明，使用主动提供的遗传教育来简化遗传检测方法可能会减少高危男性进行级联检测的障碍，从而提高接受率。鉴于选择的样本和高不响应率，这些结果应谨慎解释。
