The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life
Open Access
- 7 August 2008
- journal article
- research article
- Published by Wiley in Psycho‐Oncology
- Vol. 17 (8), 822-830
- https://doi.org/10.1002/pon.1311
Abstract
Objective: 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. Method: 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). Results: 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. Conclusion: Counsellors and researchers need to address discrepancies between the counsellees' factual recall and their subjective interpretation of non-informative BRCA1/2-test results. Copyright © 2007 John Wiley & Sons, Ltd.Keywords
This publication has 51 references indexed in Scilit:
- No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test ResultCancer Epidemiology, Biomarkers & Prevention, 2005
- Psychological distress in women at increased risk for breast cancer: the role of risk perceptionEuropean Journal Of Cancer, 2004
- Diagnostic Genetic Testing for Hereditary Breast and Ovarian Cancer in Cancer Patients: Women's Looking Back on the Pre-Test Period and a Psychological EvaluationGenetic Testing, 2004
- Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2Science, 2003
- Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 StudiesAmerican Journal of Human Genetics, 2003
- What do ratings of cancer‐specific distress mean among women at high risk of breast and ovarian cancer?American Journal of Medical Genetics Part A, 2002
- Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer FamiliesAmerican Journal of Human Genetics, 1998
- Mediating Effects of Perceived Personal Control in Coping With a Health Threat: The Case of Genetic Counseling1Journal of Applied Social Psychology, 1997
- Identification of the breast cancer susceptibility gene BRCA2Nature, 1995
- Asymmetry of doubt in medical self-diagnosis: The ambiguity of "uncertain wellness."Journal of Personality and Social Psychology, 1991