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深入了解前列腺癌患者如何解读和传达基因检测结果:对家庭的影响。

Insight into how patients with prostate cancer interpret and communicate genetic test results: implications for families.

作者信息

Leader Amy E, Mercado Joanna, Klein Austin, Hyatt Colette, Gross Laura, Brandt Rachael, Giri Veda N

机构信息

Division of Population Science, Department of Medical Oncology and the Sidney Kimmel Cancer Center, Thomas Jefferson University, 834 Chestnut Street, Suite 314, Philadelphia, PA, 19107, USA.

Human Genetics and Genetic Counseling Program, College of Life Sciences, Thomas Jefferson University, Philadelphia, PA, 19107, USA.

出版信息

J Community Genet. 2022 Dec;13(6):547-556. doi: 10.1007/s12687-022-00603-1. Epub 2022 Jul 22.

Abstract

Patients with prostate cancer (PCA) are increasingly being offered germline genetic testing for precision therapy, precision management, and clinical trial options. Genetic test results also have implications for family members. How men with PCA perceive their genetic test results and decide whether to share recommendations with family members is not well studied. We interviewed 12 patients who had PCA and genetic testing and received a positive variant/likely positive variant (PV/LPV) (n = 7) or a variant of unknown significance (VUS) (n = 5) result. The semi-structured interview had five sections: genetic testing experience, impact, and interpretation of the test result, deciding whether to communicate test results to family members, impact of communication on family members, and suggestions for genetic counselors and other PCA patients. Interviews were transcribed verbatim and thematic analysis was completed using NVivo software v10. Receipt of PV/LPV or VUS genetic test results was not as emotional as receiving the diagnosis of PCA itself. Seven of the 12 participants chose to share their test results with all relevant family members, 4 chose to share with select family members, and one chose to not disclose to any family members. The majority of family members who were aware of participants' genetic results have not undergone cascade genetic testing or sought cancer screening. Participants with PCA and positive or VUS genetic test results typically share their results with at least immediate family members, but some communication barriers exist. Understanding the best way to provide actionable and relevant information about genetic testing to family members remains a challenge.

摘要

前列腺癌(PCA)患者越来越多地接受种系基因检测,以获得精准治疗、精准管理和临床试验选择。基因检测结果对家庭成员也有影响。患有PCA的男性如何看待他们的基因检测结果以及决定是否与家庭成员分享相关建议,目前尚未得到充分研究。我们采访了12名患有PCA并接受了基因检测的患者,他们的检测结果为阳性变异/可能阳性变异(PV/LPV)(n = 7)或意义未明的变异(VUS)(n = 5)。半结构化访谈有五个部分:基因检测经历、检测结果的影响和解读、决定是否将检测结果告知家庭成员、沟通对家庭成员的影响,以及对基因咨询师和其他PCA患者的建议。访谈内容逐字转录,并使用NVivo软件v10完成主题分析。收到PV/LPV或VUS基因检测结果并不像收到PCA诊断本身那样令人情绪激动。12名参与者中有7人选择与所有相关家庭成员分享他们的检测结果,4人选择与部分家庭成员分享,1人选择不向任何家庭成员透露。大多数知晓参与者基因检测结果的家庭成员尚未接受级联基因检测或进行癌症筛查。患有PCA且基因检测结果为阳性或VUS的参与者通常会至少与直系家庭成员分享他们的结果,但仍存在一些沟通障碍。了解向家庭成员提供有关基因检测的可行且相关信息的最佳方式仍然是一项挑战。

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