BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample

To examine the short-term psychological impact of receiving definite results concerning BRCA1 mutation status in a clinical setting.

A test was offered for consecutive sample of 395 women from 53 families with demonstrated BRCA1 mutations. The sample included 50 women with a personal history of cancer, and 345 women without. Of the 287 women who chose to be tested and participated in the study, 79% of those with cancer 33% of those without cancer had a demonstrated BRCA1 mutation. Psychological distress was measured with the hospital anxiety and depression scale (HADS), the general health questionnaire (GHQ-28), the impact of event scale (IES) and Beck's hopelessness scale (BHS) at the time the patients were offered testing and six weeks after receiving the test result.

No significant changes were found in psychological distress from baseline to follow-up in any groups. Women with cancer were significantly more distressed than those without both at baseline and at six weeks, while women without cancer had levels of psychological distress comparable to or lower than normative data as measured by HADS.

Our sample had a low level of psychological distress at baseline. Receiving a definite positive or negative result on the BRCA1 test had minimal effects on short-term psychological distress. These findings indicate that establishing a special psychological service in relation to predictive BRCA1 testing could be superfluous.