High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA‐Mutation Testing without Prior Face‐to‐Face Genetic Counseling

Abstract

According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p = 0.01) and BC-specific distress (IES-bc, p = 0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.

Developing genetic counseling for male BRCA1/2 mutation carriers based on their own experiences

“…[23] Another study also found that breast cancer patients were satisfied with the type of GC they chose before genetic testing and would choose the same type again. [24] Overall, these studies support indications in our study that the DCG service model was related to the experiences of the participants. However, contrary findings that the GC delivery model was not associated with satisfaction in GC in general for women with a BRCA1/2 mutation have been reported.…”

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population

“…Sie et al (2014) have shown a preference by breast cancer patients for replacing a face-to-face genetic counseling session prior to genetic testing with telephone, written and digital information. High satisfaction with telephone genetic counseling prior to genetic testing was reported (Sie et al 2014) and no increase in psychological distress at either short or long term follow up was observed (Sie et al 2016). In our study, we did not find evidence of increased skin-cancer related worry or general psychological distress at 3-months follow up for any of the risk groups (Smit et al 2017).…”

A discrete event simulation to evaluate the cost effectiveness of germlineBRCA1andBRCA2testing in UK women with ovarian cancer

“…This study reported that RRS was associated with a short-term detrimental impact on HRQoL and, consistent with UK clinical opinion, these utility values were assumed to apply only in the cycle in which RRS occurred. The base case analysis applied no disutility for having a BRCA mutation, which is consistent with The Royal Marsden experience and other published studies [49,50]. However, a disutility has been reported in at least one study [48] and thus was included in sensitivity analyses.…”

“…NICE clinical guidance 164 for familial breast cancer recommends that BRCA mutation carriers aged [30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49] years should undergo annual magnetic resonance imaging (MRI) surveillance, and those aged >40 years should have annual mammograms [17]. It is important to note that it was not possible to capture the benefit of increased surveillance in terms of earlier diagnosis of cancer, because the analysis did not specifically consider patients at different stages of their disease; however the extra surveillance costs have been included and therefore the results can be considered conservative.…”