Overall, our study suggests that frequency of disclosure of genetic test results by probands varies by mutation status, gender of at-risk relatives, and age of at-risk relatives. For health care providers, disclosure rates varied by specialty.
Although based on a limited sample size, our findings suggest variability in disclosure patterns based on mutation status. Women who tested positive were most likely to communicate results to both parents and all sisters (100%), compared to those who tested true negative or uninformative. It is possible that the differences between positives and true negatives may be due to the fact that women who were in the true negative category were being tested for a previously identified mutation in the family. Thus, some parents and sisters may have already been tested, making it less likely that patients would see the need to disclose test results to other relatives who already have definitive information about their mutation status. This explanation is supported by the observation that those who were true negative were more likely to share results with brothers and children (i.e., those not likely to have had prior testing) when compared to those who tested positive. It is also possible that those who test negative for a known familial mutation may feel a sense of guilt in sharing results with relatives who are positive (most likely parents or sisters who have been tested) [56
Similar to prior studies [43
], those who received uninformative results were also less likely to share results with family members compared to those who tested positive. Women with these test results may have difficulty understanding and communicating test results to family members due to both cognitive and emotional factors. A few studies of women who received uninformative test results suggest that they are likely to express uncertainty, misinterpret their test results [58
], or report negative emotional reactions such as anger and frustration [59
]. Communication of uninformative test results may occur less often because of probands'concern that at-risk relatives would take the results to mean they were not at increased risk for breast cancer [42
]. This is evidenced by a recent study of 39 relatives of probands who received uninformative test results; relatives' medical decisions were based on their own perceptions of increased cancer risk and generally did not correlate with information actually communicated to them by the proband [34
As observed in prior studies [43
], probands were more likely to disclose test results to female relatives in each test result category. This finding is likely due to the higher cancer risks and greater availability of prevention/risk management options for female patients. However, given the equal risks of transmitting BRCA
mutations to male and female offspring, increasing documentation of male cancer risks [60
], and emerging surveillance guidelines for male BRCA
mutation carriers [61
], it is critical that female patients understand the importance of sharing test results with all at-risk relatives.
Another interesting observation from our study that is consistent with recent investigations on this topic is the disclosure of test results to minor children. While there are specific recommendations against BRCA
testing for minors [35
], there are less clear guidelines regarding disclosure of parents' test results to children. Because there are no recommended surveillance or risk reduction options prior to age 25 for known BRCA
mutation carriers, there has been debate about the possible negative sequelae associated with disclosing cancer risk to minor children. Yet, several studies have documented that parents share test results with their minor offspring [37
]. In our study, of the three women with positive BRCA
test results, none had a daughter or son below the age of 18. Those who tested true negative shared results with an average of 67% of minor daughters and shared uninformative test results with at least one daughter. The largest published study to date on this topic included 253 parents who had undergone BRCA
testing and 505 offspring. Not surprisingly, for those who shared true negative results, children often expressed relief. However, parents perceived distress more frequently among offspring learning about their parent's BRCA
positive or variant of uncertain significance result [38
]. Thus, consideration of developmentally appropriate psychosocial interventions to support children who learn of BRCA
mutation status, particularly positive and uninformative results, is warranted.
With regard to sharing results with health care providers, it appears that women were more likely to share results with oncology care providers, particularly medical oncologists. Prior studies document that fewer women attend GC (and therefore pursue testing) prior to surgical treatment for breast cancer [66
]. Thus, the sharing of results with medical oncologists likely reflects the greater proportion of women referred by medical oncologists who generally assume their care after surgery. This finding is also supported by several studies of provider utilization of GC and testing that suggest when compared to other oncology care physicians (e.g., surgeons, radiation oncologists), medical oncologists have higher levels of knowledge and utilization of BRCA
]. It is possible that the rates of sharing results with providers in the oncology care setting may also reflect probands' assumptions that all providers from a single institution would be made aware of or have access to genetic test results. However, at some institutions, BRCA
results may be kept out of the “main” medical record and not accessible to all physicians involved in a patient's oncology care [71
]. The health professional providing pre- and posttest GC should also discuss the patient's preferences for informing the relevant oncology providers based on specific institutional policies about documentation of BRCA
Overall, participants reported sharing test results less often with primary care providers compared to oncology care providers. The frequency of sharing results (40–49%) is similar to another study that examined sharing of BRCA
genetic test results with nononcology health care providers (30–44%) [51
]. It is noteworthy that although patients in our study were only ~5 months from receiving test results, compared to the other study where participants may have been several years from testing (as early as 1997), rates of test result disclosure were similar for both populations; this suggests low rates of disclosure with primary care providers may persist over time. As time elapses, most breast cancer patients tested in the oncology care setting will transition into survivorship and their care will move back into the primary care setting [72
]. Primary care physicians will assume more responsibility for prevention or risk management of secondary cancers in these patients. Thus, it is important to encourage breast cancer patients to share results with their primary care providers.
While our study presents important information about the frequency with which genetic information is shared with at-risk relatives and health care providers, findings should be considered in light of certain limitations. First, our sample size is small and did not allow for statistical analyses of differences in disclosure based on variables such as mutation status, gender of relative, or provider type. However, ours is the first study to focus on this issue exclusively among affected breast cancer patients and provides preliminary data to support larger studies focused on understanding and supporting disclosure of BRCA
test results among patients receiving counseling and testing at or near the time of a breast cancer diagnosis. Second, we evaluated sharing of test results during a relatively short time period (~5 months post receipt of BRCA
test results). However, prior studies suggest that the majority of test result disclosures with first-degree relatives occurs within weeks to a few months of when the proband receives their test results [43
]. Similarly, we observed consistent rates of communication with health care providers between our study and one that included breast cancer survivors who were several years from the time of testing [51
]. This implies that if communication does not occur early, it will not likely occur later. Third, we did not assess detailed communication beyond first-degree relatives. However, given that first-degree relatives are at highest risk for inheriting a BRCA
mutation and most likely to be informed by a proband's test results, we selected to focus on this group to minimize participant burden of a lengthy questionnaire that would be required to assess additional at-risk relatives. Our sample for the present study represents a subset of women from a larger study who remained in the study for the six-month assessment and were also willing to share test results. In this sense, selection bias should be considered when interpreting out results; it is possible that our results do not capture the full variability of disclosure patterns among women in this population. Finally, we did not directly assess whether patients had a previously identified BRCA
mutation in the family. Patients who were undergoing testing for a known family mutation may not need to communicate results with other at-risk relatives given this information may have already been provided by the initial relative who tested positive.