Clinical Question

Does breast cancer genetic risk assessment in those at risk of familial breast cancer lead to improvements in psychological well-being?

Evidence-Based Answer

Based on limited evidence from three trials, cancer genetic risk assessment reduces distress, improves accuracy of perceived breast cancer risk, and increases breast cancer and genetics knowledge.

Practice Pointers

Five to 10 percent of breast cancer occurrences are attributable to mutations in the BRCA1 or BRCA2 genes. Patients with these genetic mutations have an 80 percent lifetime risk of developing breast cancer.

In this Cochrane review, the authors examined three trials, with a total of 1,251 participants, to study the impact of cancer genetic risk assessment on outcomes, including perceived risk, knowledge, and psychological distress. Statistical pooling of results was not possible.

One trial randomized 354 women, recruited from family members of women with breast cancer, to one of two counseling intervention groups (genetic or psychosocial counseling) or to a control group (no counseling). At the six-month follow-up, both counseling interventions showed a significantly lower perceived risk of breast cancer and cancer-specific worry compared with the control group. Participants in the psychosocial counseling group reported statistically significantly lower anxiety compared with the genetic counseling and control groups. There was a nonsignificant decrease in depressive symptoms over time in the intervention and control groups.

A second trial randomized 740 women with a family history of breast cancer to receive a multidisciplinary genetic assessment service with BRCA testing (when applicable) or the standard service involving surgical staff consultation (control). Of those women initially participating in the study, 25 percent withdrew; these women were younger and reported higher baseline cancer worry compared with those completing the trial. There was little difference in outcomes between the intervention and control groups. Anxiety and cancer worry decreased from baseline immediately after clinic visits for both groups. Anxiety increased at nine months, but did not exceed baseline levels. A statistically significant increase in knowledge was found in both groups; however, the increase in knowledge was significantly greater for those in the intervention group.

A trial including 373 patients from 170 primary care practices randomized patients into two groups: the intervention group saw a genetics nurse specialist in a primary care office, who referred those at an increased risk to a regional geneticist and genetics nurse specialist; the control group went to the existing multidisciplinary service, which referred women at an increased risk to a familial breast cancer clinic. The results of this trial may have been influenced by baseline differences in cancer worry and completion rates in the intervention group compared with the control group, and by the 34 percent participant withdrawal rate. No significant differences were found between the two groups on any of the outcomes at baseline, four weeks, and six-month follow-up; both groups experienced an improvement in their understanding of genetic cancer risk and showed decreases in distress and perceived cancer risk.

The U.S. Preventive Services Task Force recommends against routine genetic counseling or BRCA testing in the general population; however, it does recommend that women whose family history is strongly associated with an increased risk of BRCA1 and BRCA2 mutations be referred for genetic counseling and evaluation for BRCA testing.¹

The American College of Obstetricians and Gynecologists recommends offering BRCA mutation testing to families in which multiple family members have breast or ovarian cancer, or in which a BRCA mutation has been found.²