Marcelo M Sleiman, Talia Zamir, Beth N Peshkin, Jada G Hamilton, Mingqian Liu, Mary Rose Yockel, Benjamin Wilfond, Lainie Friedman Ross, Jamie Brower, Hannah Ovadia, Rosalba Sacca, Beth Tarini, Susan M Domchek, Claudine Isaacs, Kenneth P Tercyak
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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. 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引用次数: 0
摘要
癌症风险的级联基因检测可以影响亲属的健康结果,因为他们可能从风险降低和筛查中受益。然而,临床指南不鼓励在儿童时期进行预测性基因检测,包括直接面向消费者(DTC)的检测。这项研究调查了高风险父母为他们的孩子(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。调查由N = 126名父母完成,这些父母具有易患成人发病遗传性癌症的致病变异,包括在DTC检测小组中。共有81%的孩子知道他们的父母有遗传性癌症易感性,62%的父母讨论过他们的孩子参加癌症基因检测。家长确定的DTC检测的潜在风险包括缺乏与临床医生的接触;潜在的好处是它对儿童/家庭健康的有用性和便利性。有较大子女的父母(B = 0.07, p =
Parental Communication With Their Children About Cancer Risk and DTC.
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.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .