Henrikson Nora B, Blasi Paula, Figueroa Gray Marlaine, Tiffany Brooks T, Scrol Aaron, Ralston James D, Fullerton Stephanie M, Lim Catherine Y, Ewing John, Leppig Kathleen A
Kaiser Permanente Washington Health Research Institute, Seattle, WA 98101, USA.
Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA 98195, USA.
J Pers Med. 2021 Jun 10;11(6):538. doi: 10.3390/jpm11060538.
Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes is key to realizing the promise of precision medicine. We conducted a qualitative study to design a patient- and family-centered program for direct contact of relatives to recommend cascade genetic testing. We conducted two rounds of data collection using focus groups followed by individual interviews with patients with HBOC or Lynch syndrome and a separate sample of people with a family history of hereditary cancers. Results indicate that U.S.-based health system-led direct contact of relatives is acceptable to patients and families, should take a programmatic approach, include consent of relatives before proband testing, complement to existing patient-mediated disclosure, and allow for relative control of information. Our findings suggest a set of requirements for U.S.-based direct contact programs that could ultimately benefit more relatives than current approaches.
对于已知有遗传性癌症综合征基因风险的人群的亲属而言，健康益处是实现精准医学前景的关键。我们开展了一项定性研究，以设计一个以患者和家庭为中心的项目，用于直接联系亲属以推荐级联基因检测。我们通过焦点小组进行了两轮数据收集，随后对患有遗传性乳腺癌卵巢癌综合征（HBOC）或林奇综合征的患者以及有遗传性癌症家族史的另一组人群进行了个体访谈。结果表明，在美国，由卫生系统主导的直接联系亲属的做法为患者和家庭所接受，应该采用系统性方法，包括在先证者检测之前获得亲属的同意，作为对现有患者介导的信息披露的补充，并允许亲属对信息进行控制。我们的研究结果提出了一套针对美国直接联系项目的要求，这些要求最终可能使比目前方法更多的亲属受益。
