Arver Brita, Haegermark Aina, Platten Ulla, Lindblom Annika, Brandberg Yvonne
Department of Molecular Medicine, Clinical Genetic Unit, Karolinska University Hospital, Stockholm, Sweden.
Fam Cancer. 2004;3(2):109-16. doi: 10.1023/B:FAME.0000039863.89137.f9.
A prospective study of psychosocial consequences following predictive testing for inherited mutations in breast/ovarian and colon cancer susceptibility genes BRCA1, BRCA2, MLH1, and MSH2 was performed. Eighty-seven healthy women were tested for known family mutations and self-assessment scales were used to evaluate anxiety, depression and quality of life. Extensive pre- and post-test information was given. Questionnaires were responded before testing and four times after during the following year. A statistically significant decrease in anxiety mean scores over time was observed among the studied participants. The levels of depression in cancer genes carriers decreased over time while, surprisingly the levels in non-carriers increased. Compared to a normative Swedish sample all women tested showed similar levels of anxiety but women tested for breast cancer genes showed statistically lower levels of depression. Vitality dropped initially after disclosure of the testing of colon cancer genes carriers, followed by increasing levels. No change in vitality or in other quality of life parameters was seen in the other groups and the levels were similar to Swedish norm data. Most tested individuals were satisfied with the testing procedure including genetic counselling and testing and all of them but one would redo the testing. Healthy self-referred women going through predictive breast/ovarian or colon cancer gene testing, including extensive pre- and post-test information and support, in general, will not experience adverse psychological consequences.
对乳腺癌/卵巢癌和结肠癌易感基因BRCA1、BRCA2、MLH1和MSH2的遗传性突变进行预测性检测后的心理社会后果进行了一项前瞻性研究。87名健康女性接受了已知家族突变检测，并使用自我评估量表来评估焦虑、抑郁和生活质量。提供了广泛的检测前和检测后信息。在检测前和检测后的次年进行了四次问卷调查。在研究参与者中观察到焦虑平均得分随时间有统计学意义的下降。癌症基因携带者的抑郁水平随时间下降，而令人惊讶的是，非携带者的抑郁水平上升。与瑞典正常样本相比，所有接受检测的女性焦虑水平相似，但检测乳腺癌基因的女性抑郁水平在统计学上较低。结肠癌基因携带者检测结果公布后，活力最初下降，随后上升。其他组的活力或其他生活质量参数没有变化，且水平与瑞典正常数据相似。大多数接受检测的个体对检测程序（包括遗传咨询和检测）感到满意，除一人外所有人都愿意再次进行检测。一般来说，健康的自我推荐女性接受预测性乳腺癌/卵巢癌或结肠癌基因检测，包括广泛的检测前和检测后信息及支持，不会经历不良心理后果。
