Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Inherited Breast Cancer Syndromes
In another study, depression rates postdisclosure were unchanged for mutation carriers and markedly decreased for noncarriers. An analysis of the distress of individuals receiving BRCA1 results in the context of their siblings' results, however, revealed patterns of response suggesting that certain subgroups of tested individuals have markedly increased levels of distress after disclosure that were not apparent when the analysis focused only on comparing the mean scores for carriers versus noncarriers. Early optimistic findings may not sufficiently reflect the true complexity of response to disclosure of BRCA1/BRCA2 test results. Female carriers who had no carrier siblings had distress scores (IES) similar to those found in cancer patients 10 weeks after their diagnosis. The distress of male subjects was highly correlated with the status of their siblings' test results or lack thereof. One pilot study suggested that women diagnosed more recently were more distressed after counseling. A survey of women enrolled in a high-risk clinic found that heightened levels of distress may be more related to living with the awareness of a familial risk of cancer than with the genetic testing process itself. Obtaining genetic testing may be less stressful than living with the awareness of familial risk of cancer. (Refer to the PDQ Supportive Care summaries on Depression and Adjustment to Cancer: Anxiety and Distress for more detailed information about depression and anxiety associated with a cancer diagnosis.) Case descriptions have supported the importance of family relationships and test outcomes in shaping the distress of tested individuals.[111,112]
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 [113,114] and are less able themselves to anticipate the intensity of their reactions following result disclosure. 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. 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.[113,116]
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. 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 post-test. 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 post-disclosure predicted increased risk of delay in risk management decision-making.