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家庭中的一切:对姐妹间关于BRCA1和BRCA2基因检测结果沟通的过程与内容的评估

All in the family: evaluation of the process and content of sisters' communication about BRCA1 and BRCA2 genetic test results.

作者信息

Hughes Chanita, Lerman Caryn, Schwartz Marc, Peshkin Beth N, Wenzel Lari, Narod Steven, Corio Camille, Tercyak Kenneth P, Hanna Danielle, Isaacs Claudine, Main David

机构信息

Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

出版信息

Am J Med Genet. 2002 Jan 15;107(2):143-50. doi: 10.1002/ajmg.10110.

Abstract

Despite the potential importance of family communication, little is known about the process and content of communicating BRCA1/2 test results to relatives. The objectives of this observational study were to describe the process and content of communicating BRCA1/2 test results to sisters, and to evaluate whether the proband's carrier status influenced communication outcomes. Participants were 43 women who were the first family member to have genetic testing (probands). Probands reported on communication outcomes for 81 sisters. Process and content variables were evaluated 1-month after receipt of BRCA1/2 test results using the Family Communication Questionnaire (FCQ). Overall, BRCA1/2 test results were communicated to 85% of sisters, and carriers communicated their results to significantly more sisters compared to uninformative (96% vs. 76%, FET = 0.02). The most important reason for communicating results was to provide genetic risk information; however, compared to uninformatives, carriers communicated their results to significantly more sisters to obtain emotional support (74%) and to get advice about medical decisions (42%) (FET = 0.001). Carriers also discussed the possibility of discrimination and recommendations for cancer management with significantly more sisters. Among sisters to whom BRCA1/2 test results were not communicated, the most important reason for not sharing test results was because of emotionally distant relationships. The results of this study suggest that probands are likely to quickly communicate their BRCA1/2 test results to relatives and that although needs for social support may motivate family communication, emotionally distant relationships may be a barrier to communication with relatives.

摘要

尽管家庭沟通可能具有重要意义,但对于向亲属传达BRCA1/2检测结果的过程和内容却知之甚少。这项观察性研究的目的是描述向姐妹传达BRCA1/2检测结果的过程和内容,并评估先证者的携带者状态是否会影响沟通结果。参与者为43名作为首个进行基因检测的家庭成员的女性(先证者)。先证者报告了81名姐妹的沟通结果。在收到BRCA1/2检测结果1个月后,使用家庭沟通问卷(FCQ)对过程和内容变量进行评估。总体而言,BRCA1/2检测结果传达给了85%的姐妹,与检测结果无信息价值的先证者相比,携带者向更多姐妹传达了结果(96%对76%,费希尔精确检验P值=0.02)。传达结果的最重要原因是提供遗传风险信息;然而,与检测结果无信息价值的先证者相比,携带者向更多姐妹传达结果是为了获得情感支持(74%)和获取医疗决策方面的建议(42%)(费希尔精确检验P值=0.001)。携带者还与更多姐妹讨论了歧视的可能性以及癌症管理建议。在未收到BRCA1/2检测结果的姐妹中,不分享检测结果的最重要原因是关系疏远。本研究结果表明,先证者可能会迅速向亲属传达其BRCA1/2检测结果,尽管对社会支持的需求可能推动家庭沟通,但关系疏远可能是与亲属沟通的障碍。

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