Smith K R, West J A, Croyle R T, Botkin J R
Department of Family and Consumer Studies, University of Utah, Salt Lake City 84112, USA.
Cancer Epidemiol Biomarkers Prev. 1999 Apr;8(4 Pt 2):385-92.
To determine whether psychological distress differs among individuals tested for a BRCA1 mutation and is moderated by the pattern of their siblings' test results.
Participants in this study are members of a large kindred identified with a BRCA1 mutation. Subjects included 87 males and 125 females who completed a baseline interview, were tested for a BRCA1 gene mutation, received their results in person from a genetic counselor, completed a follow-up interview 1-2 weeks after the receipt of their test results, and had complete data on all variables used in the analysis. The main outcome of the study was psychological distress as measured by the Impact of Event Scale during the 1-2 week follow-up interview. Data were analyzed based on multiple regression.
Male carriers, relative to noncarriers, experienced significantly more distress if they were the first tested than when all of their tested siblings were already known to be negative. Noncarrier males whose siblings all tested positive also encountered significant test-related distress. The largest adverse psychological consequences for female carriers, relative to noncarriers, were for those who were tested first and those whose tested siblings were noncarriers.
The familial context in which genetic testing is conducted may be important for understanding how individuals react to their own test results.
确定接受BRCA1基因突变检测的个体之间心理困扰是否存在差异，以及其兄弟姐妹的检测结果模式是否会对其产生调节作用。
本研究的参与者是一个经鉴定带有BRCA1基因突变的大家族成员。受试者包括87名男性和125名女性，他们完成了基线访谈，接受了BRCA1基因突变检测，从遗传咨询师那里亲自得知检测结果，在收到检测结果1至2周后完成了随访访谈，并且拥有分析中使用的所有变量的完整数据。研究的主要结果是在1至2周的随访访谈中通过事件影响量表测量的心理困扰。数据采用多元回归分析。
与非携带者相比，如果男性携带者是第一个接受检测的，那么他们所经历的困扰要比其所有接受检测的兄弟姐妹已知均为阴性时显著更多。兄弟姐妹检测结果均为阳性的非携带者男性也遭遇了与检测相关的显著困扰。与非携带者相比，女性携带者最大的不良心理后果出现在那些第一个接受检测的女性以及其接受检测的兄弟姐妹为非携带者的女性身上。
进行基因检测时的家族背景对于理解个体对自身检测结果的反应可能很重要。
