Claes Erna, Evers-Kiebooms Gerry, Boogaerts Andrea, Decruyenaere Marleen, Denayer Lieve, Legius Eric
Psychosocial Genetics Unit, Center for Human Genetics, Leuven, Belgium.
Am J Med Genet A. 2003 Jan 1;116A(1):11-9. doi: 10.1002/ajmg.a.10868.
The psychological aspects of genetic testing for hereditary breast and ovarian cancer (HBOC) in cancer patients (diagnostic genetic testing) have so far received less attention than predictive genetic testing in unaffected persons. Our study is aimed at gaining insight into the psychological aspects of diagnostic genetic testing and at formulating practical recommendations for counseling. Cancer patients often play a key role in the communication of information to relatives because they were the first individuals to be tested in the family. The present article focuses on the communication to close and distant relatives about the hereditary cancer, the genetic test and its result. Participants previously diagnosed with breast and/or ovarian cancer, with a family history of these cancers and who requested DNA-testing, were eligible for the study. Of the 83 eligible patients who could be contacted, 63 participated (response rate = 76%). Twenty-six participants were members of a family where a BRCA1 or BRCA2 mutation was detected. The DNA-analysis in the family of 37 participants had not revealed any mutation. Data were collected by semi-structured interviews and psychological tests and questionnaires. The dissemination of information was largely focused on first-degree relatives. Communication to distant relatives about the genetic test and its result was problematic. Other than the genetic test result and age as "objective" predictors of informing distant relatives, little and/or superficial contact seemed to be the major subjective barrier to informing distant relatives. Furthermore, the knowledge about HBOC of these messengers reveals several shortcomings. Communication within the family should receive special attention during counseling.
癌症患者遗传性乳腺癌和卵巢癌（HBOC）基因检测的心理层面（诊断性基因检测），迄今为止受到的关注少于未受影响人群的预测性基因检测。我们的研究旨在深入了解诊断性基因检测的心理层面，并为咨询制定实用建议。癌症患者在向亲属传递信息方面往往起着关键作用，因为他们是家族中首个接受检测的人。本文重点关注向近亲和远亲传达遗传性癌症、基因检测及其结果的情况。先前被诊断患有乳腺癌和/或卵巢癌、有这些癌症家族史且要求进行DNA检测的参与者符合该研究条件。在83名能够联系到的符合条件的患者中，63名参与了研究（回复率 = 76%）。26名参与者所在家族检测到BRCA1或BRCA2突变。37名参与者的家族DNA分析未发现任何突变。数据通过半结构化访谈、心理测试和问卷调查收集。信息传播主要集中在一级亲属。向远亲传达基因检测及其结果存在问题。除了基因检测结果和年龄作为告知远亲的“客观”预测因素外，很少和/或表面的接触似乎是告知远亲的主要主观障碍。此外，这些信息传递者对HBOC的了解存在一些不足。在咨询过程中，应特别关注家族内部的沟通。
