患者与临床医生和家庭成员的接触 关于遗传检测结果 在遗传性癌症易感性的妇女中跨风险组
Steven J Katz1,2, Paul Abrahamse3, Allison Furgal3
1Department of Medicine, University of Michigan, Ann Arbor, MI.
JCO oncology practice
|January 13, 2026
概括
癌症患者与亲属分享生殖基因检测结果,但临床医生的支持,特别是瘤学家的支持是不够的. 那些具有未知意义的变异 (VUS) 的人与家人对结果的接触较少.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 患者沟通 患者沟通
背景情况:
- 生殖系基因检测对于癌症风险评估和管理至关重要.
- 了解患者与临床医生和家人关于遗传测试结果的接触,对于有效的遗传咨询和级联测试至关重要.
研究的目的:
- 检查被诊断患有癌症的妇女如何与临床医生和亲属就她们的生殖基因检测结果进行接触.
- 为了比较不同风险组的参与,包括致病变体 (PV) 和未知意义的变体 (VUS).
主要方法:
- 一项调查对1,767名被诊断患有乳腺癌,卵巢癌或子宫癌的女性 (20-79岁) 进行了调查.
- 参与者进行了胚胎基因检测,发现了PV或VUS,在诊断后4年进行了调查.
主要成果:
- 大多数患有PV的患者 (84.5%) 接受了遗传咨询,70.6%被鼓励与亲属分享结果.
- 临床医生对家庭沟通的支持很低;只有三分之一的高风险PV患者报告了瘤学家的鼓励.
- 患有PVs的患者与80%的一级亲属和三分之一的二级亲属共享结果. 患有VUS的患者与临床医生和家庭的接触较少.
结论:
- 虽然PV患者的结果广泛共享,但临床医生对家庭沟通的支持不足,特别是来自瘤学家的支持.
- 患有VUS的患者对结果的参与度较低,突出显示需要进一步研究讨论不确定的遗传发现.
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