What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer (original) (raw)
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No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result
Cancer Epidemiology Biomarkers & Prevention, 2005
Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that some of them may be falsely reassured and, consequently, may not adhere to recommended surveillance. The purpose of this study is to evaluate whether women with inconclusive BRCA1/2 test results are falsely reassured. Methods: Participants were adult women with a family history suggestive of a germ-line mutation in either the BRCA1 or the BRCA2 gene who underwent genetic testing in the context of the interdisciplinary research program INHERIT BRCAs. Data were collected using selfadministered questionnaires at genetic counseling and 1 month after result disclosure. Reassurance was assessed through indicators of cancer risk perception, cancer worry, relief following result disclosure, painfulness of the test result, and its effect on quality of life.
Receiving inconclusive genetic test results: An interpretive description of the BRCA1/2 experience
Research in Nursing & Health, 2008
We examined the experience of 21 women diagnosed with breast or ovarian cancer who received inconclusive BRCA1/2 genetic test results. Although these women received similar information on the technical meaning of an inconclusive result, their interpretations of personal risk for a probable, inherited cancer mutation differed. Their interpretations ranged from confidence that they probably carried an undetected gene mutation to believing that their cancer had no genetic basis. Women drew from their personal experience with genetic testing and from distinctive perceptions and beliefs in attempting to understand their test results; they variously drew upon such evidence as observations of similarities and differences within familial breast/ovarian cancer patterns to explain their ultimate conclusions as to their own genetic status.ß
Communication of BRCA Results and Family Testing in 1,103 High-Risk Women
… Biomarkers & Prevention, 2010
BACKGROUND: Genetic testing for hereditary cancer risk has implications for individuals and families. This study of women at risk of hereditary breast and ovarian cancer examines communication of BRCA results and subsequent genetic testing in the family. METHODS: We surveyed 1,103 female BRCA testers at two hospitals, querying for communication of results and testing in relatives. RESULTS: Ninety-seven percent of participants communicated BRCA results with at least one relative. Communication was negatively associated with older age [odds ratio (OR), 0.66 per decade; 95% confidence interval, (95% CI), 0.4-0.9], Asian race (OR, 0.18; 95% CI, 0.06-0.5), and testing at the public hospital versus the cancer center (OR, 0.19; 95% CI, 0.07-0.5). Communication was positively associated with increased knowledge of hereditary breast and ovarian cancer screening and risk reduction recommendations (OR, 1.9; 95% CI, 1.1-3.4) and increased satisfaction with the decision to BRCA test (OR, 2.6; 95% CI, 1.6-4.0). Seventy-five percent of BRCA-positive participants reported that at least one relative pursued genetic testing. Family testing was negatively associated with Asian race (OR, 0.15; 95% CI, 0.02-0.8) and positively associated with increased socioeconomic status (OR, 1.4; 95% CI, 1.1-1.7) and increased satisfaction with decision (OR, 2.1; 95% CI, 1.1-4.1). CONCLUSION: Despite high overall rates of communicating BRCA results, underserved and some minority women seem less likely to inform relatives of their BRCA status or have relatives test for a known family mutation. Satisfaction with the decision to BRCA test is positively associated with both outcomes. IMPACT: This study identified several novel predictors of family communication and family genetic testing in a large population of high-risk women. This work can inform clinicians interested in improving family communication regarding cancer predisposition testing.
Psycho-Oncology, 2009
Objective: BRCA1/2 gene mutations are not frequently identified in breast or ovarian cancer patients who are the first members of their family to be tested. Little is known about how probands interpret and cope with these results, which are generally referred to as 'inconclusive'. The aim of this study was to describe subjective understanding by women with cancer in response to an inconclusive BRCA1/2 test, describing the difficulties or non-difficulties they encountered about the transmission of information to their family.
British journal of cancer, 2013
The effect of BRCA1/2 gene test result on anxiety, depression, cancer-related thought intrusion or avoidance and perceived control over cancer risk was assessed in breast cancer (BC) patients, according to their perceived probability of genetic predisposition to cancer. Two hundred and forty-three (89% response rate) women with BC completed questionnaires after an initial genetic counselling visit (T1), of which 180 (66%) completed questionnaires again after receiving the BRCA1/2 results (T2). The discrepancy between women's perceived probability of cancer genetic predisposition at T1 and the geneticist's computed estimates was assessed. In all, 74% of women received a negative uninformative (NU), 11% a positive BRCA1/2 and 15% an unclassified variant (UV) result. On hierarchical regression analysis, in women with a positive BRCA1/2 result (vs NU or UV), a lower perceived probability of cancer genetic predisposition than objective estimates at T1 predicted lower levels of an...
Journal of Health Communication, 2019
Refined estimates of risk based on genetic risk modifiers could assist BRCA mutation carriers in understanding their risk, but it is not clear whether carriers are interested in receiving these estimates or how they might benefit from them. Using qualitative interviews, we investigated female BRCA1 and BRCA2 mutation carriers' (N = 20) reactions to numerical and verbal presentations of breast cancer risk based on risk modifiers and assessed women's preferences regarding visual formats for communicating risk. Our results show carriers are interested in receiving refined risk estimates and suggest the estimates may influence decision-making regarding cancer prevention, depending on the nature of the risk assessment. Although accurate and precise estimates of breast cancer risk are most important to women, they preferred quantitative risk estimates expressed as a proportion with or without a population comparison; however, women noted that comparisons to other BRCA mutation carriers were less useful given their high risk. Participants also preferred communication of a risk as a specific percentage versus a range of risk, but a clear preference regarding visual displays was not expressed. Results support many existing recommendations for genetic risk communication and provide guidance for the development of tools incorporating genetic risk modifiers. Carriers of BRCA1 or BRCA2 gene mutations have an elevated risk of developing breast cancer compared to those who don't; lifetime breast cancer risk is 50-85% among BRCA mutation carriers (Antoniou et al., 2003; Metcalfe et al., 2004) versus just 12% among women in the general population (National Cancer Institute Surveillance, 2017). However, variation in breast cancer risk exists among BRCA mutation carriers (Begg et al., 2008); at least 20% of BRCA mutation carriers have an estimated breast cancer risk that is significantly higher (i.e., 81-100%) or lower (i.e., 28-50%) than ranges typically quoted (Couch et al., 2013). This variability can partially be explained by genetic variants associated with breast cancer risk, which modify breast cancer susceptibility (Antoniou et al., 2010). An estimated 250,000 individuals undergo testing for BRCA mutations annually and 350,000 U.S. adults are predicted to carry the mutations, although just 30% of carriers have been formally identified (Drohan, Roche, Cusack, & Hughes, 2012; Guo et al., 2017). The communication of cancer risk is critical to carriers' comprehension and management of risk (Croyle & Lerman, 1999; Sivell et al., 2008) and refined estimates of risk could assist mutation carriers in understanding their risk.
European Journal of Human Genetics, 2011
In a French national cohort of unaffected females carriers/non-carriers of a BRCA1/2 mutation, long-term preventive strategies and breast/ovarian cancer risk perceptions were followed up to 5 years after test result disclosure, using self-administered questionnaires. Response rate was 74%. Carriers (N¼101) were younger (average age±SD¼37±10) than non-carriers (N¼145; 42 ± 12). There were four management strategies that comprised 88% of the decisions made by the unaffected carriers: 50% opted for breast surveillance alone, based on either magnetic resonance imaging (MRI) and other imaging (31%) or mammography alone (19%); 38% opted for either risk reducing salpingo-oophorectomy (RRSO) and breast surveillance, based on MRI and other imaging (28%) or mammography alone (10%). The other three strategies were: risk reducing mastectomy (RRM) and RRSO (5%), RRM alone (2%) and neither RRM/RRSO nor surveillance (6%). The results obtained for various age groups are presented here. Non-carriers often opted for screening despite their low cancer risk. Result disclosure increased carriers' short-term high breast/ovarian cancer risk perceptions (Pp0.02) and decreased non-carriers' short-and long-term perceptions (Po0.001). During follow-up, high breast cancer risk perceptions increased with time among those who had no RRM and decreased in the opposite case; high ovarian cancer risk perceptions increased further with time among those who had no RRSO and decreased in the opposite case; RRSO did not affect breast cancer risk perceptions. Informed decision-making involves letting women know whether opting for RRSO and breast MRI surveillance is as effective in terms of survival as RRM and RRSO.
The Decision to Test in Women Receiving Genetic Counseling for BRCA1 and BRCA2 Mutations
Journal of Genetic Counseling, 2000
the relationship among intentions to test, self-reported provision of blood sample, and receipt of test results; (2) the impact of genetic counseling on distress specific to gene status, perceived risk of developing breast and ovarian cancer in the context having BRCA1/2 mutations (mutations predisposing to increased risk of breastovarian cancer), and perceived risk factors for breast cancer; and (3) the clinical profile of those receiving/not receiving results. Intentions to test for BRCA1/2 mutations, self-reported provision of blood sample immediately after counseling, and receipt of test results were statistically different but highly correlated, and intentions to test increased from pre-to postcounseling. A repeated measures ANOVA found distress specific to gene status and perceived risk factors decreased from pre-to postcounseling. Further, two clinical profiles of consultands emerged: (1) those receiving results with change in intentions to test having lower levels of distress and those not receiving results and those receiving results with no change in intentions to test with higher levels of distress. Our findings are consistent with the function of genetic counseling-to provide information and support to those with familial cancer, as well as to assist in decision making. The