The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life
The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life
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DOI：
10.1002/pon.1311
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发表时间：
2008-08-01
期刊：
影响因子：
3.6
通讯作者：
Tibben, Aad
中科院分区：
文献类型：
--
作者：
Vos, Joel;Otten, Wilma;Tibben, Aad
目的：在所有BRCA 1/2突变分析中，有13%发现了未分类的变异（UV，临床意义不确定的变异）。很少有人知道咨询者的回忆和解释的紫外线，其心理社会/医疗影响。回顾性半结构式访谈与开放式问题和五点李克特量表进行了24 counselees谁收到了紫外线结果3年前（SD = 1.9）。结果：百分之六十七（16/24）回忆紫外线结果作为一个非信息性的DNA结果，29%的回忆致病的结果。然而，79%的咨询者将紫外线结果解释为癌症的遗传易感性。回忆和解释的变化是无法解释的人口统计学，自己和亲属的癌症史，以及UV披露的通信方面。67%的人认为遗传咨询已经完成，而71%的人希望获得新的DNA信息。虽然大多数咨询者报告说，紫外线的披露改变了他们的生活一般很少，三分之一的咨询者报告说，在特定的生活领域，特别是在监视行为和医疗决策的巨大变化。19名参与者中有10人解释的UV为致病性进行了预防性手术，对没有5 consultlees谁解释的UV为non-informational.Conclusion：辅导员和研究人员需要解决consultlees的事实回忆和他们的主观解释的非信息BRCA 1/2测试结果之间的差异。版权所有（C）2007约翰威利父子有限公司
Objective: Unclassified variants (UVs, variants of uncertain clinical significance) are found in 13% of all BRCA1/2 mutation analyses. Little is known about the counsellees' recall and interpretation of a UV, and its psychosocial/medical impact.Method. Retrospective semi-structured interviews with open questions and five-point Likert scales were carried out in 24 counsellees who received a UV result 3 years before (sd = 1.9).Results: Sixty-seven percent (16/24) recalled the UV result as a non-informative DNA result; 29% recalled a pathogenic result. However, 79% of all counsellees interpreted the UV result as a genetic predisposition for cancer. Variations in recall and interpretation were unexplained by demographics, cancer history of themselves and relatives, and communication aspects of UV disclosure. Sixty-seven percent perceived genetic counselling as completed, whereas 71% expected to receive new DNA information. Although most counsellees reported that UV disclosure had changed their lives in general little, one in three counsellees reported large changes in specific life domains, especially in surveillance behavior and medical decisions. Ten out of 19 participants who interpreted the UV as pathogenic had undergone preventive surgery against none of the 5 counsellees who interpreted the UV as non-informative.Conclusion: Counsellors and researchers need to address discrepancies between the counsellees' factual recall and their subjective interpretation of non-informative BRCA1/2-test results. Copyright (C) 2007 John Wiley & Sons, Ltd.