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家长对未成年人进行 BRCA1/2 基因检测的看法。

Parent opinions regarding the genetic testing of minors for BRCA1/2.

机构信息

University of Chicago,Chicago, IL, USA.

出版信息

J Clin Oncol. 2010 Jul 20;28(21):3498-505. doi: 10.1200/JCO.2009.27.2971. Epub 2010 Jun 21.

Abstract

PURPOSE

Although not currently recommended, genetic testing of minors for adult hereditary cancer syndromes, along with risks and benefits, is still being debated. Thus, we evaluated parent opinions regarding BRCA1/2 testing of minors, in general, and hypothetically, for parents' own minor child.

METHODS

Semistructured interviews were conducted to assess parent opinions regarding BRCA1/2 testing in minors, along with parent rationale for and factors associated with these opinions.

RESULTS

In total, 246 parents at two academic cancer risk assessment programs who underwent BRCA1/2 testing completed the interview (60% response rate). In response to a dichotomous question, 37% of parents supported testing minors. Responses to an open-ended query suggest that 47% support testing minors in some or all circumstances. Parent negative BRCA1/2 test result (P = .02), parent male sex (P = .03), and minority race (P = .01) were independently associated with support of testing minors. In response to a dichotomous question, 44% of parents reported hypothetical interest in testing their own minor offspring. Responses to an open-ended query suggest that 55% would consider, hypothetically, testing their child in some or all circumstances. Parent negative test result (P = .01), less than a college education (P < .01), and older mean offspring age (P = .05) were associated with interest in testing one's own child.

CONCLUSION

Parents' opinions regarding BRCA1/2 testing of minors are divided. Given the lack of evidence supporting either the permission or restriction of BRCA1/2 testing in minors, further evaluation of the risks and benefits of providing genetic risk information and genetic testing to minors for adult-onset disease is needed to inform clinical practice and guidelines.

摘要

目的

尽管目前不建议对未成年人进行成人遗传性癌症综合征的基因检测,但对其风险和益处仍存在争议。因此,我们评估了父母对未成年人 BRCA1/2 检测的意见,包括对所有未成年人进行一般和假设性检测的意见。

方法

采用半结构化访谈评估父母对未成年人 BRCA1/2 检测的意见,以及父母对这些意见的基本原理和影响因素。

结果

在两个学术癌症风险评估项目中,共有 246 名接受 BRCA1/2 检测的父母完成了访谈(60%的回复率)。在回答一个二分问题时,37%的父母支持对未成年人进行检测。对一个开放式问题的回答表明,47%的父母在某些或所有情况下支持对未成年人进行检测。父母的 BRCA1/2 阴性检测结果(P=0.02)、父母为男性(P=0.03)和少数民族(P=0.01)与支持对未成年人进行检测独立相关。在回答一个二分问题时,44%的父母表示有兴趣对自己的未成年子女进行假设性检测。对一个开放式问题的回答表明,55%的父母会在某些或所有情况下考虑对自己的孩子进行检测。父母的阴性检测结果(P=0.01)、未完成大学教育(P<0.01)和未成年子女的平均年龄较大(P=0.05)与对自己孩子进行检测的兴趣相关。

结论

父母对未成年人 BRCA1/2 检测的意见存在分歧。鉴于缺乏支持对未成年人进行 BRCA1/2 检测的许可或限制的证据,需要进一步评估向未成年人提供遗传风险信息和对成年发病疾病进行遗传检测的风险和益处,以为临床实践和指南提供信息。

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