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父母与子女就癌症风险及直接面向消费者的级联基因检测进行的沟通:对基因教育与咨询的启示

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling.

作者信息

Sleiman Marcelo M, Zamir Talia, Peshkin Beth N, Hamilton Jada G, Liu Mingqian, Yockel Mary Rose, Wilfond Benjamin, Ross Lainie Friedman, Brower Jamie, Ovadia Hannah, Sacca Rosalba, Tarini Beth, Domchek Susan M, Isaacs Claudine, Tercyak Kenneth P

机构信息

Georgetown University Lombardi Comprehensive Cancer Center, Washington, District of Columbia, USA.

Memorial Sloan Kettering Cancer Center, New York, New York, USA.

出版信息

Am J Med Genet A. 2025 Sep;197(9):e64115. doi: 10.1002/ajmg.a.64115. Epub 2025 May 13.

Abstract

Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood-including direct-to-consumer (DTC) testing. This study examined high-risk parents' preparation of their children (primarily adolescents and young adults) for cascade genetic testing for adult-onset inherited cancers. Surveys were completed by N = 126 parents with pathogenic variants predisposing to adult-onset inherited cancers included on DTC testing panels. A total of 81% of children were aware of their parents' hereditary cancer predisposition and 62% of parents had discussed their children's participation in cancer genetic testing. Potential risks of DTC testing identified by parents included lack of engagement with clinicians; potential benefits were its usefulness for child/family health and convenience. Parents with older children (B = 0.07, p = < 0.001), greater confidence in using genetic information (B = 0.02, p < 0.05), and who held more favorable opinions about pediatric genetic testing (B = 0.02, p < 0.01) were more likely to make their children aware of their familial cancer risk and discuss cascade testing. Most high-risk parents discuss hereditary cancer and testing options with their older children. Research is needed to enrich understanding of healthcare professionals' roles in navigating the implications of cascade genetic testing choices within the family, including DTC testing.

摘要

针对癌症风险的级联基因检测可能会影响亲属的健康结果,因为他们可能会从降低风险和筛查中受益。然而,临床指南不鼓励在儿童期进行预测性基因检测,包括直接面向消费者(DTC)的检测。本研究调查了高危父母为其子女(主要是青少年和年轻人)进行成人发病遗传性癌症级联基因检测的准备情况。N = 126名携带DTC检测面板上所列的成人发病遗传性癌症致病变异的父母完成了调查。共有81%的子女知晓其父母的遗传性癌症易感性,62%的父母讨论过子女参与癌症基因检测的问题。父母们指出的DTC检测的潜在风险包括缺乏与临床医生的沟通;潜在益处是对孩子/家庭健康有用且方便。子女年龄较大的父母(B = 0.07,p = < 0.001)、对使用基因信息更有信心的父母(B = 0.02,p < 0.05)以及对儿科基因检测持更积极看法的父母(B = 0.02,p < 0.01)更有可能让子女知晓其家族癌症风险并讨论级联检测。大多数高危父母会与年龄较大的子女讨论遗传性癌症及检测选择。需要开展研究以更深入了解医疗保健专业人员在处理家庭中级联基因检测选择(包括DTC检测)的影响方面所起的作用。

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