Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Clin Genet. 2011 Mar;79(3):207-18. doi: 10.1111/j.1399-0004.2010.01581.x. Epub 2010 Nov 28.
Previous studies on the counsellees' perception of DNA test results did not clarify whether counsellees were asked about their recollections or interpretations, and focused only on patients' own risks and not on the likelihood that cancer is heritable in the family. We tested differences and correlations of four perception aspects: recollections and interpretations of both cancer risks and heredity likelihood. In a retrospective study, women tested for BRCA1/2 on average, 5 years ago, completed questionnaires about their perception. Participants had received an unclassified variant (n = 76), uninformative (n = 76) or pathogenic mutation (n = 51) result in BRCA1/2. Analyses included t-tests, correlations and structural equation modelling. The counsellees' perception showed to consist of four distinctive phenomena: recollections and interpretations of cancer risks and of heredity likelihood. This distinctiveness was suggested by significant differences between these perception variables. Moderate to strong correlations were found between these variables, suggesting that these differences between variables were consistent. The relationships between these variables were not influenced by actually communicated DNA test results, sociodemographics, medical and pedigree information, or framing of cancer risk questions. The largest differences between recollections and interpretations were found in the unclassified variant group and the smallest in uninformatives. Cancer risks and heredity likelihood correlated least in the pathogenic mutation group. Communication of ambiguous genetic information enlarged the differences. To understand the counsellees' perception of genetic counselling, researchers should study recollections and interpretations of cancer risks and heredity likelihood. Genetic counsellors should explicitly address the counsellees' recollections and interpretations, and be aware of possible inaccuracies.
先前关于咨询对象对 DNA 检测结果的看法的研究并未阐明咨询对象是否被问及他们的回忆或解释，而且仅关注患者自身的风险，而不关注癌症在家族中遗传的可能性。我们测试了四个感知方面的差异和相关性：对癌症风险和遗传可能性的回忆和解释。在一项回顾性研究中，平均在 5 年前接受 BRCA1/2 检测的女性完成了关于她们感知的问卷。参与者收到了 BRCA1/2 中未分类变异（n = 76）、无信息（n = 76）或致病性突变（n = 51）的结果。分析包括 t 检验、相关性和结构方程模型。咨询对象的感知由四个独特的现象组成：对癌症风险和遗传可能性的回忆和解释。这些感知变量之间的显著差异表明了这种独特性。这些变量之间存在中度到强相关性，表明这些变量之间的差异是一致的。这些变量之间的关系不受实际传达的 DNA 检测结果、社会人口统计学、医学和家族史信息或癌症风险问题的框架的影响。在未分类变异组中发现回忆和解释之间的差异最大，在无信息组中发现差异最小。在致病性突变组中，癌症风险和遗传可能性的相关性最小。模糊遗传信息的传播扩大了差异。为了理解咨询对象对遗传咨询的看法，研究人员应该研究对癌症风险和遗传可能性的回忆和解释。遗传咨询师应该明确解决咨询对象的回忆和解释问题，并注意可能存在的不准确性。
