Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA1/2-test results

J. Vos*, Jan C. Oosterwijk, E. Gomez-Garcia, Fred H. Menko, A. M. Jansen, Reinoud D. Stoel, Christi J. van Asperen, A. Tibben, Anne M. Stiggelbout

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)207-218
JournalClinical Genetics
Issue number3
Publication statusPublished - Mar 2011


  • BRCA1/2
  • genetic counselling
  • heuristic
  • interpretation
  • oncology
  • perception
  • psychology
  • risk perception


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