Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Psychooncology. 2012 Jan;21(1):29-42. doi: 10.1002/pon.1864. Epub 2010 Nov 11.
BACKGROUND: It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for hereditary breast/ovarian cancer. METHODS: Two hundred and four women, who had previously been tested for BRCA1/2, participated in a retrospective questionnaire study; 93% had cancer. Communicated Information (I) consisted of cancer risks and BRCA1/2 test result category: unclassified variant (n = 76), uninformative (n = 76), pathogenic mutation (n = 51). Four perception variables (P) were included: the counselees' recollections and interpretations of both the cancer risks and the likelihood that the cancer in their family is heritable. The Outcome variables (O) included life changes, counselees' medical decisions, BRCA-related self-concept, current psychological well-being, and quality-of-life. Bootstrap mediation analyses determined whether relationships were direct (I→O or P→O) or indirect through the mediation of perception (I→P→O). RESULTS: The actually communicated pathogenic mutation and uninformative result directly predicted medical decisions (I→O), i.e. intended and performed surgery of breasts/ovaries. All other outcomes were only directly predicted by the counselees' perception (recollection and interpretation) of their cancer risks and heredity likelihood (P→O), or this perception mediated the outcome (I→P→O). However, this perception was significantly different from the actually communicated cancer risks (I→P). Unclassified variants were inaccurately perceived (mostly overestimated); this misperception predicted both psychological outcomes and radical medical decisions. DISCUSSION: Genetic counselors need to explicitly address the counselee's interpretations and intended medical decisions. In case of misinterpretations, additional counseling might be offered. Communication of unclassified variants needs special attention given the pitfall of overestimation of risk.
背景：有人假设，与实际传达的遗传信息（I）相比，被咨询者的感知（P）能更好地预测和/或介导 DNA 检测的结果（O）。在这项研究中，我们旨在量化感知在遗传性乳腺癌/卵巢癌遗传咨询中的作用。
方法：204 名先前接受过 BRCA1/2 检测的女性参与了回顾性问卷调查研究；93%的参与者患有癌症。传达的信息（I）包括癌症风险和 BRCA1/2 检测结果类别：未分类变异（n=76）、无信息（n=76）、致病性突变（n=51）。包括四个感知变量（P）：被咨询者对癌症风险和家族癌症遗传性的回忆和解释。结果变量（O）包括生活变化、被咨询者的医疗决策、与 BRCA 相关的自我概念、当前的心理健康和生活质量。自举中介分析确定关系是直接的（I→O 或 P→O）还是通过感知的中介（I→P→O）间接的。
结果：实际传达的致病性突变和无信息结果直接预测了医疗决策（I→O），即乳房/卵巢的手术意图和实施。所有其他结果仅被被咨询者对其癌症风险和遗传性可能性的感知（回忆和解释）直接预测（P→O），或者这种感知中介了结果（I→P→O）。然而，这种感知与实际传达的癌症风险（I→P）显著不同。未分类变异被不准确地感知（大多被高估）；这种误解预测了心理结果和激进的医疗决策。
讨论：遗传咨询师需要明确处理被咨询者的解释和预期的医疗决策。如果存在误解，可能需要提供额外的咨询。鉴于风险高估的陷阱，需要特别注意未分类变异的沟通。
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