BRCA1/2 genetic testing uptake and psychosocial outcomes in men

Abstract

Few studies have quantitatively evaluated the uptake and outcomes of BRCA1/2 genetic counseling and testing in men. We conducted a prospective longitudinal study to describe and compare uptake of and psychosocial outcomes following BRCA1/2 testing in a sample of men and women at high-risk for carrying a BRCA1/2 mutation. Men (n = 98) and women (n = 243) unaffected with cancer completed baseline assessments prior to genetic counseling and testing and then 6- and 12-months post-testing. Most men (n = 94; 95.9%) opted to have genetic testing, of whom 44 received positive BRCA1/2 genetic test results and 50 received true negative results. Among women, 93.4% had genetic testing, of whom 79 received positive results and 148 received negative results. In multivariate models, male BRCA1/2 carriers reported significantly higher genetic testing distress (6-months: Z = 4.48, P < 0.0001; 12-months: Z = 2.78, P < 0.01) than male non-carriers. After controlling for baseline levels of distress, no statistically significant differences emerged between male and female BRCA1/2 carriers in psychological distress at 12-months post-testing, although absolute differences were evident over time. Predictors of distress related to genetic testing among male carriers at 12-months included higher baseline cancer-specific distress (Z = 4.73, P < 0.0001) and being unmarried (Z = 2.18, P < 0.05). Similarly, baseline cancer-specific distress was independently associated with cancer-specific distress at 6- (Z = 3.66, P < 0.001) and 12-months (Z = 4.44, P < 0.0001) post-testing among male carriers. Clinically, our results suggest that pre-test assessment of distress and creation of educational materials specifically tailored to the needs and concerns of male carriers may be appropriate in this important but understudied high-risk group.

Psychiatric implications of cancer genetic testing

“…53 Other studies have not reported any change in psychological risk with positive test results. 32,33,40,[57][58][59][60][61][62] Nonetheless, women who test positive for BRCA1/BRCA2 are also often met with resistance, shock, and other negative emotions from family members. [63][64][65][66] Similarly studies of individuals undergoing HNPCC testing demonstrate that the individual experiences of both unaffected and affected carriers are varied, but the majority experience an overall decrease in anxiety and depression.…”

Interest of individuals from BRCA families to participate in research studies focused on male BRCA carriers

“…In fact, Graves et al recently reported that uptake was not different between males and females in their study, in which genetic counseling and testing were provided free of charge. 17 In contrast, Finlay et al reported higher completion rates of genetic testing in female compared to male first-degree relatives (73% vs. 49%) and second-degree relatives (68% vs. 43%) of BRCA mutation carriers (p<0.01). 18 Finally, Evans et al concluded that male family members had a substantially higher uptake of genetic testing, suggesting utility of proactive approaches to ensure these high risk men receive appropriate information.…”

Spectrum of tumors in the families with Hereditary Breast Ovarian Cancer syndrome carrying germline mutations in BRCA1 and 2 genes

“…In a meta-analysis of mood disorder prevalence in cancer settings, there was less interviewer-defined depression and anxiety than anticipated in cancer patients, although a combination of various mood disorders occurred in 30-40% of hospitalized cancer patients [35]. In a study of long-term distress in a sub-set of men with BRCA1/2 mutations, predictors of distress included higher baseline distress and being unmarried [15], whereas, most of our distressed participants were married and all but one were affected with TC. The sources of the reported distress have yet to be resolved [6,36-38].…”

“…Feelings of heightened intimacy and bonding, satisfying sexual relations, and intimate involvement in the illness experience can contribute to overall adjustment [6,54]. Single men, a vulnerable group, will also undoubtedly also benefit from the opportunity to process their experiences over time [15]. Friendship relationships both in terms of long-term buddies from childhood and adolescence and those developed through members of a sports team, a comparatively neglected area of inquiry, could be further investigated as sources of social support, opinion molding and decision-making in familial cancer families as well as other male-associated cancers.…”

“…For example, we know that men in HBOC families worry about their sisters, partners, or children [10-14]. In another study, predictors of distress in male BRCA1/2 carriers at 1 year included higher baseline cancer-specific distress and being unmarried [15]. A number of studies have found that men in HBOC families report communication difficulties [16-19].…”