Publications (6)20.32 Total impact
- [Show abstract] [Hide abstract] ABSTRACT: 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. 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). 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. 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.
- [Show abstract] [Hide abstract] ABSTRACT: 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.
- [Show abstract] [Hide abstract] ABSTRACT: Objective of this paper is to study how DNA-test result information was communicated and perceived within families. A retrospective descriptive study in 13 probands with a BRCA1/2 unclassified variant, 7 with a pathogenic mutation, 5 with an uninformative result, and in 44, 14, and 12 of their 1st and 2nd degree relatives respectively. We examined differences and correlations between: (a) information actually communicated (b) probands' perception, (c) relatives' perception. The perception consisted of recollections and interpretations of both their own and their relatives' cancer-risks, and heredity-likelihood (i.e. likelihood that cancer is heritable in the family). Differences and low correlations suggested few similarities between the actually communicated information, the probands' and the relatives' perception. More specifically, probands recalled the communicated information differently compared with the actually communicated information (R = .40), and reinterpreted this information differently (R = .30). The relatives' perception was best correlated with the proband's interpretation (R = .08), but this perception differed significantly from their proband's perception. Finally, relatives reinterpreted the information they received from their proband differently (R = .25), and this interpretation was only slightly related with the original message communicated by the genetic-counsellor (R = .15). Unclassified-variants were most frequently misinterpreted by probands and relatives, and had the largest differences between probands' and relatives' perceptions. Like in a children's whisper-game, many errors occur in the transmission of DNA-test result information in families. More attention is required for how probands disseminate information to relatives. Genetic-counsellors may help by supporting the probands in communicating to relatives, e.g. by providing clear summary letters for relatives.
- [Show abstract] [Hide abstract] ABSTRACT: 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.
- [Show abstract] [Hide abstract] ABSTRACT: Background: Unclassified variant and uninformative BRCA1/2 results are not only relevant for probands to whom results are disclosed but also for untested relatives. Previous studies have seldomly included relatives and have not explained how their lives were influenced by these results. We explored the family communication timeline of genetic counseling: (1) genetic counselors communicate the relatives' cancer risk, (2) probands perceive this risk and (3) communicate this to relatives; (4) relatives perceive this information, and (5) experience an impact on their lives.
- [Show abstract] [Hide abstract] ABSTRACT: Unclassified variants (UVs, variants of uncertain clinical significance) are found in 13% of all BRCA1/2 mutation analyses. Little is known about the counsellees' recall and interpretation of a UV, and its psychosocial/medical impact. Retrospective semi-structured interviews with open questions and five-point Likert scales were carried out in 24 counsellees who received a UV result 3 years before (sd=1.9). Sixty-seven percent (16/24) recalled the UV result as a non-informative DNA result; 29% recalled a pathogenic result. However, 79% of all counsellees interpreted the UV result as a genetic predisposition for cancer. Variations in recall and interpretation were unexplained by demographics, cancer history of themselves and relatives, and communication aspects of UV disclosure. Sixty-seven percent perceived genetic counselling as completed, whereas 71% expected to receive new DNA information. Although most counsellees reported that UV disclosure had changed their lives in general little, one in three counsellees reported large changes in specific life domains, especially in surveillance behavior and medical decisions. Ten out of 19 participants who interpreted the UV as pathogenic had undergone preventive surgery against none of the 5 counsellees who interpreted the UV as non-informative. Counsellors and researchers need to address discrepancies between the counsellees' factual recall and their subjective interpretation of non-informative BRCA1/2-test results.
Leiden University Medical Centre
Leyden, South Holland, Netherlands
- Department of Clinical Genetics
Leiden UniversityLeyden, South Holland, Netherlands