Most women who receive positive or uninformative BRCA1/2
mutation test results face complex and emotion-laden decisions about their breast and ovarian cancer risk management [25
]. Given that carriers often do not receive definitive guidance on which risk management strategy is best for them and those with uninformative results do not have formal guidelines to assist their decision making, these decisions must be made based on individual preferences.
We examined whether the receipt of BRCA1/2 genetic test results changes individual preferences, which were measured as perceived pros and cons of risk management strategies. We further evaluated whether these perceived pros and cons predicted short-term intentions for and longer-term uptake of risk-reducing surgery. We found that patient preferences for risk-reducing surgery became more positive following receipt of a positive test result. Specifically, patients who learned that they carry a BRCA1/2 mutation exhibited an increase in the perceived RRM/RRO pros compared to those with uninformative test results. Perceived cons did not change. Further, perceived pros were significantly associated with intentions for RRM/RRO among BRCA1/2 carriers, as were perceived cons with intentions for RRM among carriers. Finally, pros and cons in carriers prospectively predicted uptake of RRO in the year post-testing.
It is unclear why the perceived pros of surgeries were more likely to change than the cons and to predict intentions. It may capture discussions had with both medical and genetic counseling providers, in which providers may counsel carriers about the advantages of RRO for this high risk group. Also, early studies of attitudes towards RRM/RRO found that increased worry predicted surgical intentions [26
], which is captured in our pros scale. Also, unfortunately, many of the disadvantages of the surgeries do not change—even in women inclined towards surgery, the importance of these risks does not seem to dissipate. Rather, it appears that the relative advantages of these surgeries in terms of risk-reduction may truly increase following a positive result. As a result, pros may come to outweigh cons. Our data also indicate that carriers view screening more negatively than uninformatives at post-disclosure. Thus, it may be that in considering risk management options following the receipt of a positive result, RRM pros (reducing future cancer risks) and screening cons (missing a cancer that is present) may become more pronounced, as might the related differences between prevention vs. early detection.
Our study also showed the potential value of measuring preferences for risk-reducing surgery post-disclosure. Perceived pros and cons predicted subsequent uptake of RRO, even after controlling for post-disclosure RRO intentions. This suggests that for women who are initially ambivalent or undecided, those with the strongest preferences are most likely to ultimately proceed with RRO. This may also suggest that those with the strongest preferences may be most likely to obtain RRO in the year post-testing. Women who were more ambivalent, i.e., those who viewed the pros and cons of surgery as equivalent, may delay surgery. Longer-term data would be needed to examine these trends. It also suggests that when predicting actual behavior, the cons of surgery do enter into these decisions. Those who hold stronger reservations about surgery may still hesitate to move forward with this important decision.
Our low overall rate of RRM is consistent with previous reports documenting low RRM uptake in the year post-testing [29
]. This low rate of RRM may explain the lack of an association between pros/cons and RRM uptake. Recent studies suggest increasing use of RRM [31
] and ongoing uptake of RRM after the first year following testing [23
]. Likewise, guidelines now include enhanced screening [4
]. Since our data were collected from 2001-2005, the rates of RRM may be different if the data were collected today. Further, it is likely that more carriers opted for RRM in subsequent years. We did detect an association between pros/cons and intentions, though the strongest predictor of intentions for and uptake of RRM were previous intentions. It may be that women inclined towards surgery at pre-disclosure baseline remain so after the receipt of test results and that the receipt of a positive test result does not make women who are disinclined to RRM more amenable. A substantial literature shows how intentions relate to behaviors in terms of timing and behavioral context [34
]. Perhaps given the perceived aggressive nature of RRM, any changes in pros/cons of RRM may not be able to predict uptake of RRM above and beyond the contribution of intentions. However, behavioral outcomes for RRM should be evaluated in datasets that follow surgical outcomes for longer than 12 months post-testing to determine the longer-term relationships among these variables.
This study has several limitations. Although the overall sample size was large, few women received RRM in the year post-testing. Thus, we were unable to determine whether changes in pros and cons about RRM ultimately predicted behavior. In addition, all of our uninformatives were cancer-affected. We are unable to comment on potential results for unaffected women with these results or to look at the impact of affected status in models of intention for uninformatives. Also, we did not assess pros and cons of breast screening at pre-disclosure baseline. Therefore, we were unable to examine the change in these over time or to fully assess whether and how changes in pros and cons of screening and surgery relate. Also, because our data at 6- and 12-months post-disclosure were gathered in the context of a randomized trial, our measures of uptake must be considered in this context. Though we controlled to randomization status in our models for surgery uptake, the data for which were collected after randomization, we must consider that findings in purely clinical settings may vary. Also, there are certain aspects of our pros/cons measures that are weaknesses. The fact that our data were collected from 2001-2005, our screening measure does not capture more recent advances in screening that could potentially impact our findings. Also, while our cons of RRO reference menopausal symptoms, they do not specifically ask women about this important con. The time period of our data collection also limited our ability to examine rates of enhanced screening. Finally, the lack of diversity of the study sample limits the generalizability of these results. In particular, the vast majority of study participants were well-educated, employed and White. Thus, we do not know whether these results could be replicated in a sample of more racially and ethnically diverse or lower SES women. Also, our results may not generalize to community samples [36
Despite these limitations, the present report demonstrates that the receipt of BRCA1/2 mutation test results impacts how mutation carriers see the positive aspects of RRO and RRM and further, that these positive aspects predict intentions for surgery. Pros and cons predict uptake of RRO in carriers. Future research should follow women further in time to better capture behavioral outcomes.