Department of Medicine, University of Michigan, Ann Arbor, MI.
Department of Health Management and Policy, School of Public Health, University of Michigan, Ann Arbor, MI.
J Clin Oncol. 2024 Sep 10;42(26):3123-3129. doi: 10.1200/JCO.24.00122. Epub 2024 Jul 15.
To examine receipt of genetic testing and communication with relatives about results into survivorship after diagnosis of breast cancer.
Women age 20-79 years diagnosed with early-stage breast cancer in 2014-2015 and reported to the Georgia and Los Angeles County SEER registries were surveyed approximately 7 months and 6 years after diagnosis (n = 1,412). We asked about genetic counseling, testing, and communication with relatives about results. We categorized women into indications for testing on the basis of clinical guidelines at the time of diagnosis and at the time of the follow-up survey (FUPs).
A total of 47.4% had indications for genetic testing at any time: 28.0% at baseline and an additional 19.4% at the time of the FUPs (only); 71.9% (95% CI, 67.4 to 76.4) of those with a baseline indication reported genetic testing versus 53.3% (95% CI, 47.3 to 59.2) with an indication at FUPs only and 35.0% (95% CI, 31.6 to 38.4) with no indication ( < .001). There were no significant racial or ethnic differences in receipt of testing, controlling for age and clinical indications ( = .239); results for genetic counseling were similar. Only 3.4% of survivors had direct-to-consumer genetic testing (DTCt) for cancer. Testers who reported a pathogenic variant (n = 62) were much more likely to have talked to most or all their first-degree adult relatives about genetic testing than those with a variant of unknown significance (n = 49) or a negative finding (n = 419): 62.7% versus 38.8% and 38.0%, respectively ( < .001).
Many women with indications for genetic counseling and testing into survivorship do not receive it. But those tested reach out to family members on the basis of the clinical relevance of their results. Very few patients obtained DTCt, which suggests that these tests do not substitute for clinical testing in breast cancer survivors.
研究乳腺癌诊断后，遗传检测的接受情况以及与亲属就检测结果进行沟通的情况，以此探讨生存状况。
2014-2015 年，在佐治亚州和洛杉矶县 SEER 登记处登记诊断为早期乳腺癌的 20-79 岁女性，在诊断后约 7 个月和 6 年后（n=1412）接受调查。我们询问了遗传咨询、检测以及与亲属沟通检测结果的情况。我们根据诊断时和随访调查时（FUPs）的临床指南，将女性分为有检测指征的类别。
共有 47.4%的女性在任何时候都有检测指征：28.0%在基线时，另外 19.4%仅在 FUPs 时；有基线指征的女性中，71.9%（95%置信区间，67.4-76.4）报告接受了检测，而仅在 FUPs 时有指征的女性中，有 53.3%（95%置信区间，47.3-59.2）接受了检测，没有指征的女性中，有 35.0%（95%置信区间，31.6-38.4）接受了检测（<0.001）。在控制年龄和临床指征后，接受检测的种族或民族差异没有统计学意义（=0.239）；遗传咨询的结果相似。仅有 3.4%的幸存者进行了癌症的直接面向消费者的基因检测（DTCt）。报告致病性变异（n=62）的检测者更有可能与大多数或所有一级成年亲属讨论基因检测，而非报告意义不明的变异（n=49）或阴性发现（n=419）的检测者：62.7%比 38.8%和 38.0%（<0.001）。
许多有遗传咨询和检测指征的女性并未接受这些检测。但是，那些接受检测的人会根据检测结果的临床意义，与家人进行沟通。很少有患者接受 DTCt，这表明这些检测并不能替代乳腺癌幸存者的临床检测。
