Sharing GJB2/GJB6 genetic test information with family members.
Sharing GJB2/GJB6 genetic test information with family members.
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DOI：
10.1007/s10897-006-9066-z
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发表时间：
2007-06-01
影响因子：
1.9
通讯作者：
Palmer, Christina G S
中科院分区：
文献类型：
--
作者：
Blase, Terri;Martinez, Ariadna;Palmer, Christina G S
虽然GJB 2/GJB 6基因检测可用于非综合征性听力损失，但没有关于与家庭成员分享检测结果的信息。进行了一项定性研究，以阐明听力损失儿童的父母是否，如何以及为什么与亲属分享GJB 2/GJB 6测试结果。父母的孩子有测试（n = 7阳性，n = 4阴性，n = 1不确定的结果）参加了一个半结构化的采访和反应进行了分析，使用定性方法。所有参与者都与至少一位亲属分享了测试结果，但也观察到了选择性不披露。分享的原因和反应是多种多样的，并根据测试结果而有所不同。在将本研究的结果与已发表的文献进行比较时，发现了听力损失与其他疾病的基因检测结果的相似性和差异性。差异表明听力损失可能具有影响对基因测试信息的反应的独特属性。需要进一步的研究来复制这些发现。
Although GJB2/GJB6 genetic testing for non-syndromic hearing loss is available, there is no information regarding sharing of test results with family members. A qualitative study was conducted to elucidate if, how, and why parents of a child with hearing loss share GJB2/GJB6 test results with relatives. Parents whose child had testing (n = 7 positive, n = 4 negative, n = 1 inconclusive results) participated in a semi-structured interview and responses were analyzed using qualitative methods. All participants shared the test result with at least one relative, but selective non-disclosure also was observed. Reasons for, and reactions to, sharing were diverse and differed as a function of test result. In comparing the results from this study to published literature, similarities and differences were identified with regards to disclosure of genetic test results for hearing loss versus other conditions. Differences suggest that hearing loss may have unique attributes that influence responses to genetic test information. Further research is needed to replicate these findings.