Communication about carrier testing within hemophilia A families.
Communication about carrier testing within hemophilia A families.
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关于甲型血友病家族内携带者检测的沟通。
DOI：
10.1002/ajmg.c.10001
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Newman,Jamie
中科院分区：
文献类型：
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作者：
Sorenson,JamesR;Jennings-Grant,Tracey;Newman,Jamie
遗传病是家族性疾病。虽然有相当多的研究关于个人如何决定进行基因检测以及他们对检测的个人反应，但关于基因检测的家族背景的研究有限。在这项研究中，我们集中在血友病A携带者的家庭背景的三个方面，有可能成为携带者的女性。我们研究了在向这些高危女性提供基于DNA的携带者检测之前，人们在多大程度上讨论了血友病携带者检测；这些接受检测的女性与哪些家庭成员沟通了她们的携带者检测结果；以及这些女性对将携带者检测结果与包括她们的孩子在内的亲属沟通的担忧。数据表明，血友病家庭成员在参与研究之前讨论了携带者检测，家庭内检测信息的交流是有选择性的，而不是普遍的，在很大程度上遵循这种X连锁疾病的性别界限，而且对向儿童和其他亲属传达携带者状况信息的关注有限。这些数据强化了这样的观察，即家庭是社会系统，在这些系统中，信息是有选择地交流的。更全面地了解家庭如何交流基因检测信息，将使提供者能够开发更有效的方法，帮助个人处理基因检测的家庭沟通方面。©2002 Wiley-Liss公司
Genetic diseases are family diseases. Although there is considerable research on how individuals decide to have genetic testing and their individual reactions to testing, there is limited research on the familial context of genetic testing. In the present study, we focus on three aspects of the family context of genetic testing for hemophilia A carrier status among women at risk to be carriers. We look at the extent to which there was discussion of carrier testing for hemophilia before we offered DNA‐based carrier testing to these at‐risk women; with which family members these tested women communicated the results of their carrier testing; and concerns these women had about communicating their carrier test results with relatives, including their children. Data suggest that members of families with hemophilia discussed carrier testing prior to study participation, that the communication of testing information within families was selective, not universal, largely following gender lines for this X‐linked disorder, and that there was limited concern about communicating carrier status information to children and other relatives. These data reinforce observations that families are social systems, and within these systems information is selectively communicated. A more complete understanding of how families communicate genetic test information will enable providers to develop more effective means of assisting individuals in handling the familial communication aspects of genetic testing. © 2002 Wiley‐Liss, Inc.