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针对成年期遗传性癌症风险的儿科直接面向消费者的基因检测:高危父母的观点。

Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents.

作者信息

Kilbride Madison K, Peshkin Beth N, Hamilton Jada G, Brower Jamie, Ovadia Hannah, Friedman Ross Lainie, Sacca Rosalba, Tarini Beth, Domchek Susan M, Vittone Sarah, Sleiman Marcelo M, Yockel Mary Rose, Salafia Caroline, Isaacs Claudine, Wilfond Benjamin S, Statman Muriel R, Tercyak Kenneth P

机构信息

College of Humanities, University of Utah, Salt Lake City, Utah, USA.

Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, DC, USA.

出版信息

Public Health Genomics. 2025;28(1):102-112. doi: 10.1159/000543913. Epub 2025 Feb 5.

Abstract

INTRODUCTION

Despite guidelines discouraging pediatric genetic testing for adult-onset hereditary cancer risk, direct-to-consumer (DTC) companies make them available to children's parents. This study examined the perspectives of high-risk parents toward such testing.

METHODS

Interviews were conducted with N = 30 parents (children ages 10-21) carrying pathogenic variants in cancer-causing genes available for detection through DTC tests. Interviews were analyzed inductively using a standardized methodology to identify prominent themes.

RESULTS

Three major themes were identified: (1) high-risk parents' motivations for pediatric genetic testing, (2) risks and benefits of pediatric genetic testing, and (3) parental involvement of children in decision-making about testing. Although only n = 5 parents (17% of the sample) reported that their children were genetically tested (n = 3 through a DTC company, n = 2 through a clinician), 73% endorsed pediatric genetic testing for general health reasons. Many parents (53%) expressed a preference for clinical testing over DTC testing. While parents recognized the limits of DTC testing, some (40%) expressed that it should remain available to high-risk parents for the purpose of identifying cancer risks in their children. Children's maturity (70%), interest in testing (77%), and anticipated responses to testing (43%) were cited as important decisional considerations.

CONCLUSION

Few high-risk parents utilized DTC testing for their children. Parents generally preferred the prospect of clinical testing, but some believed DTC testing should be an option available to families. Clinicians should discuss the risks and benefits of pediatric genetic testing, including DTC, with high-risk parents. This may facilitate more informed decision-making that minimizes potential harms.

摘要

引言

尽管有指南不鼓励对儿童进行成人期遗传性癌症风险的基因检测,但直接面向消费者(DTC)的公司仍向儿童家长提供此类检测。本研究调查了高危家长对这种检测的看法。

方法

对N = 30名携带可通过DTC检测发现的致癌基因致病性变异的家长(其子女年龄在10 - 21岁)进行了访谈。采用标准化方法对访谈进行归纳分析,以确定突出主题。

结果

确定了三个主要主题:(1)高危家长进行儿童基因检测的动机,(2)儿童基因检测的风险和益处,以及(3)家长让孩子参与检测决策。虽然只有n = 5名家长(占样本的17%)报告说他们的孩子进行了基因检测(n = 3通过DTC公司,n = 2通过临床医生),但73%的家长出于一般健康原因认可儿童基因检测。许多家长(53%)表示更喜欢临床检测而非DTC检测。虽然家长认识到DTC检测的局限性,但一些家长(40%)表示,为了识别孩子的癌症风险,仍应向高危家长提供DTC检测。儿童的成熟度(70%)、对检测的兴趣(77%)以及对检测预期反应(43%)被认为是重要的决策考虑因素。

结论

很少有高危家长为孩子使用DTC检测。家长通常更喜欢临床检测,但一些家长认为DTC检测应该是家庭可以选择的一种方式。临床医生应与高危家长讨论儿童基因检测(包括DTC检测)的风险和益处。这可能有助于做出更明智的决策,将潜在危害降至最低。

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