To our knowledge, this is the first US study to evaluate the long-term impact of genetic testing for BRCA1/2 mutations in women more than 1 year after test results disclosure. Overall, distress and uncertainty were low; 74% of women did not experience any distress, and 41% of women did not experience any uncertainty. In addition, 51% of women reported low levels of adverse reactions in terms of no family support, dissatisfaction with family communication, and positive reactions to their BRCA1/2 test result. Although mutation carriers were most likely to report distress, our findings demonstrate that women who experience these reactions are not likely to be adversely affected in terms of cancer screening. There were no differences in mammography or TVU based on genetic testing concerns. However, women who were experiencing distress were significantly more likely to have a CA-125 compared with women who were not experiencing distress, and women who were experiencing uncertainty were most likely to have an MRI. BRCA1/2 test results were also important to screening; with the exception of mammography, mutation carriers were significantly more likely than women with negative results to have breast and ovarian cancer screening.
Recent reports have described the effects of adjunctive psychosocial and decision-making support programs for BRCA1/2
but our findings raise questions about the need for these interventions. Although mutation carriers were most likely to experience distress, the level reported by carriers in our sample was 3.9 compared with 6.7 in a sample of carriers who had received their test results during the past month.3
A recent meta-analysis found that distress among carriers and noncarriers decreased over time during a 1-year period. It could be that not only are women unlikely to experience adverse reactions such as distress several years after receiving BRCA1/2
test results, but also these concerns may dissipate over time after pretest counseling, test results disclosure, and postdisclosure follow-up.15
In light of our findings, it is important to ask whether postdisclosure programs are needed to reduce distress and minimize uncertainty about risk and management options. Because we did not evaluate utilization of psychological or psychiatric services among women in our study, it is not possible to rule this out as an explanation for the low levels of adverse reactions in our sample. Women may be referred to mental health services when indicated as part of genetic counseling; it could be that these services are used as the need arises after disclosure. However, the prevalence of psychiatric symptoms and clinical distress is low among high-risk women,16
and other work has shown that mutation carriers are not likely to use counseling services after disclosure.17
Thus, it is not likely that use of mental health services explains the low levels of adverse reactions to BRCA1/2
test results in our sample. In settings where appropriate pre- and post-test counseling is provided and medical recommendations are given by a qualified physician with expertise in cancer genetics, these resources may be sufficient to help women cope with and integrate genetic risk information effectively. However, recent research has shown that some carriers benefit from postdisclosure interventions that address concerns such as making medical decisions and managing psychological reactions.13,14
Our findings suggest that it may be useful to evaluate reactions to BRCA1/2
test results several years after disclosure and to offer postdisclosure interventions to women who carry BRCA1/2
Our findings should be considered within the context of some limitations, which include a modest response rate (60%) and a homogeneous sample in terms of racial background and other sociodemographic characteristics. This may explain the lack of variation in genetic testing concerns. However, our sample is similar to those included in other research that evaluated uptake of BRCA1/2
An additional limitation may be that all of the participants in this study were evaluated for genetic counseling and testing through comprehensive programs that provided ongoing follow-up care and, in some instances, coordinated medical services to all interested women found to carry BRCA1/2
mutation and those at high risk due to strong family history. Further, when clinically indicated, individuals were offered psychological services from mental health professionals. Future studies should evaluate genetic testing concerns in diverse populations who have had testing in different settings. As part of this research, it is important to determine the extent to which scores for adverse reactions in terms of positive experiences are associated with family communication and relationships after genetic testing.
Despite these potential limitations, our study demonstrates that women are unlikely to experience genetic testing concerns several years after receiving BRCA1/2 test results. However, mutation carriers may still experience distress, and identifying women who could benefit from further psychosocial support remains an important goal. Future research is needed to determine the level and types of support that may be most useful several years after genetic counseling and testing and to develop a model of care within which it can be provided. It will also be important to evaluate receptivity to support programs that are offered to women several years after BRCA1/2 test results are disclosed.