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测量高危父母对其青少年和年轻成年子女进行成人发病遗传性癌症综合征的直接面向消费者的基因检测的意见。

Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.

机构信息

University of Washington, Seattle, Washington, USA.

Georgetown University, Washington, District of Columbia, USA.

出版信息

J Genet Couns. 2023 Aug;32(4):768-777. doi: 10.1002/jgc4.1685. Epub 2023 Feb 7.

Abstract

Neither direct-to-consumer (DTC) genetic testing nor predictive genetic testing for adult-onset conditions is recommended for minor children due to ethical concerns and low clinical utility. However, parents with pathogenic variants (PVs) in disease-causing genes may be interested in pursuing genetic testing that includes the familial PV for their children. The Pediatric Testing Attitudes Scale (P-TAS) was previously developed to examine high-risk parents' opinions about pediatric BRCA genetic testing for adult-onset breast/ovarian cancer. Here, the psychometric properties of the P-TAS were examined in a new sample of N = 126 parents (M age = 47.2 years) with PVs in a more complete set of cancer risk genes represented on DTC panel tests. The mean score on the P-TAS was 44 out of a maximum score of 60, indicating that a majority of parents generally held favorable opinions about testing their children for adult-onset inherited cancer syndromes. The internal consistency of the full scale was high (α = 0.91). A factor analysis identified two-component scales, labeled Attitudes and Beliefs (α = 0.93) and Decision Making and Communication (α = 0.83). In a multivariable regression model, P-TAS co-factors accounted for 34% of variance in parental opinions, including the frequency of prior family communication about cancer and the likelihood of utilizing DTC genetic testing with children (R  = 0.34, p < 0.001). Results suggest that the P-TAS remains a reliable measure to assess high-risk parents' opinions about pediatric DTC genetic testing for adult-onset conditions, with promising validity. Applications of the P-TAS include informing genetic counseling practice, pediatric medical care, and policy guidelines surrounding DTC genetic testing.

摘要

由于伦理问题和临床应用价值低,不建议对未成年子女进行直接面向消费者(DTC)的基因检测或成年发病疾病的预测性基因检测。然而,患有致病变异(PV)的父母可能有兴趣对其子女进行包括家族性 PV 的基因检测。儿科检测态度量表(P-TAS)先前是为了评估高危父母对儿科 BRCA 基因检测的意见,用于检测成年发病的乳腺癌/卵巢癌。在此,我们使用 DTC 面板检测中更全面的一组癌症风险基因的新样本(N=126 名携带 PV 的父母),对 P-TAS 的心理测量学特性进行了检验。P-TAS 的平均得分为 60 分中的 44 分,表明大多数父母通常对检测子女的成年发病遗传性癌症综合征持赞成意见。全量表的内部一致性很高(α=0.91)。因子分析确定了两个分量表,分别为态度和信念(α=0.93)和决策制定与沟通(α=0.83)。在多变量回归模型中,P-TAS 的协变量解释了父母意见 34%的差异,包括先前关于癌症的家庭沟通频率和与子女进行 DTC 基因检测的可能性(R=0.34,p<0.001)。结果表明,P-TAS 仍然是评估高危父母对儿科 DTC 基因检测的意见的可靠方法,具有良好的有效性。P-TAS 的应用包括为遗传咨询实践、儿科医疗保健和 DTC 基因检测的政策指南提供信息。

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