Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Patient Educ Couns. 2012 Feb;86(2):239-51. doi: 10.1016/j.pec.2011.04.017. Epub 2011 Dec 27.
Previous studies suggest that learning a DNA-test-result has no direct impact on the medical-decisions and psychological well-being of counselees. Their perception, especially their recollections and interpretations of their cancer-risks and heredity, predict and/or mediate this impact. These studies were criticized for their small range of predictors, mediators, outcomes and contextual factors. We studied the short-term impact of DNA-testing with an extended model.
Three months after disclosure of BRCA1/2-test-results, we sent counselees a questionnaire about their perception, medical and psychological outcomes, and medical, familial and psychological contexts. 248 affected women participated; 30 had received pathogenic-mutations, 16 unclassified-variants and 202 uninformative-results.
The actually communicated genetic-information and the contextual variables predicted the counselees' perception, but did not directly predict any outcomes. The counselees' perception predicted and/or completely mediated the counselees' medical intentions and behavior, physical and psychological life-changes, stigma, mastery, negativity and cancer-worries. Short-term distress was related to the perception not only of their own risks, but also of their relatives' risks and heredity-likelihood. Effect sizes were medium to large.
The outcomes of DNA-testing were better predicted by the counselees' perception than by the actually given genetic-information. We recommend genetic-counselors to have tailored, interactive dialogues about the counselees' perception.
以往的研究表明，学习 DNA 检测结果并不会直接影响咨询者的医疗决策和心理健康。他们的感知，尤其是他们对自身癌症风险和遗传的回忆和解释，预测和/或调解了这种影响。这些研究因预测因子、中介因素、结果和情境因素的范围较小而受到批评。我们使用扩展模型研究了 DNA 检测的短期影响。
在 BRCA1/2 检测结果披露 3 个月后，我们向咨询者发送了一份关于他们的感知、医疗和心理结果以及医疗、家庭和心理背景的问卷。248 名受影响的女性参与了研究；其中 30 人接受了致病性突变，16 人接受了未分类的变异，202 人接受了无信息结果。
实际传达的遗传信息和情境变量预测了咨询者的感知，但并未直接预测任何结果。咨询者的感知预测和/或完全调解了他们的医疗意图和行为、身体和心理生活变化、污名、掌控感、消极性和癌症担忧。短期困扰不仅与咨询者自身风险的感知有关，还与他们亲属的风险和遗传可能性有关。效应大小为中等至较大。
咨询者的感知比实际提供的遗传信息更能预测 DNA 检测的结果。我们建议遗传咨询师就咨询者的感知进行有针对性的、互动式的对话。
