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Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Inherited Breast Cancer Syndromes

Table 10. Predictors Associated with Uptake of Genetic Testing (GT) continued...

Although there are not yet reports of large-scale studies of the reactions of affected individuals to genetic testing, there are indications from several smaller studies that affected individuals who undergo genetic counseling and testing experience more distress than had been expected by professionals [134,135] and are less able themselves to anticipate the intensity of their reactions following result disclosure.[136] Female mutation carriers who have had breast cancer are often surprised by their high risk of ovarian cancer. Women mutation carriers who have had breast cancer worried more than unaffected women about developing ovarian cancer, though, in general, worry about ovarian cancer risk was found to be unrealistically low.[135] In addition, some distress related to the burden of conveying genetic information to relatives has been noted among those who are the first in their families to be tested.[134,137]

The long-term effect of uninformative BRCA1/BRCA2 test results (BRCA1/BRCA2 negative, negative on a panel of three Ashkenazi founder mutations, or detecting a variant of uncertain significance) was examined in 209 women recruited from one of two comprehensive cancer centers or a community hospital.[138] These women had a personal history of breast or ovarian cancer and were assessed at pretesting, 1-, 6-, and 12-months post-disclosure. Distress was low at each time point, and declined from pretest to post-disclosure, remaining stable and low thereafter. No clinical cut-offs were reported. Those who reported higher general distress associated with cancer risk, risk-reduction efforts, and family communication and lower confidence in dealing with these issues, and those who expected to carry a deleterious mutation, had greater decisional conflict related to managing their cancer risk through 1-year posttest. In another study of 182 women drawn from this sample, most (84%) had made a risk management decision within 6 months of test result disclosure. Those who were delayed in making a risk management decision reported greater feelings of decisional uncertainty, dissatisfaction, and lack of confidence, yet there was also a high level of reported decisional conflict even among those who were early or intermediate decision-makers. Increased depression levels postdisclosure predicted increased risk of delay in risk management decision-making.[139]

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