Lessons learned from BRCA1/2 screening in Israel: A cross-sectional survey comparing experiences and communication

Abstract

This study aimed to evaluate the perceived quality of pre- and post-test explanations given to women carrying BRCA1/2 variants, and to compare these outcomes between two cohorts: female BRCA1/2 carriers identified through self-reported population-based screening (the screening group), in comparison to self-reported formal pre-test genetic counseling due to personal or familial cancer history (genetic counseling group). This cross-sectional survey of female BRCA1/2 carriers employed an anonymous questionnaire distributed through the “Good Genes – a support and information group for BRCA carriers” association from January to March 2023. Main evaluated outcomes included the perceived quality of pre- and post-test explanations, first analyzed in the overall cohort, and then compared between the 110 respondents in the screening group, to 444 women in the counseling group. In the screening group, 45.5% rated the perceived quality of pre-test explanations as unsatisfactory, compared to 27.4% in the genetic counseling group (p = 0.0005). In terms of result delivery, the screening group reported higher instances of inappropriate timing (61.8% vs. 40.3%, p < 0.0001), suboptimal mode of delivery (55.5% vs. 37.5%, p = 0.0008) and suboptimal perceived quality in post-test explanations (51.4% vs. 33.9%, p = 0.0006), as well as elevated stress levels (74.3% vs. 64.3%, p = 0.043). In the screening group, 21.5% of the women reported that the results were communicated by phone, letter, or online notice, compared to 17.2% in the counseling group, a non-statistically significant difference. A logistic regression model controlling for timing and mode of delivery showed that both timing (β = 0.46, p < 0.001) and mode of delivery (β = 0.39, p < 0.001) remained significant predictors of dissatisfaction of post-test counseling. The findings of this survey underscore the pressing need for enhancements in pre-test explanation, as well as the post-test counseling for positive results, especially within the realm of BRCA screening.