Genetic testing–related recall, psychosocial impact, and decision regret among patients with breast cancer in a mainstream genetic testing model.

Abstract

664 Background: Mainstream genetic testing (GT) (hereafter referred to as “mainstreaming”), in which non-genetics clinicians provide pre-test education, obtain informed consent, facilitate testing, and disclose results, has emerged as a strategy to expand access to germline testing. However, data are limited regarding patient understanding and psychosocial outcomes in this model, particularly for patients with negative or variant of uncertain significance (VUS) results who rarely interface with genetics clinicians. This study aimed to evaluate GT-related recall, psychosocial impact, and decision regret among patients with breast cancer who received negative or VUS results through a mainstreaming model. Methods: We conducted a cross-sectional survey of adult patients who had undergone germline GT for breast cancer and received a negative or VUS result through a mainstreaming model at an academic medical center. Participants reported their sociodemographic characteristics, health literacy (BRIEF Health Literacy Screening Tool), GT recall, psychosocial impact (Multidimensional Impact of Cancer Risk Assessment [MICRA], which measures distress, uncertainty, and positive experiences associated with GT), and decision regret (Decision Regret Scale [DRS]). We evaluated associations between health literacy and GT recall, MICRA, and DRS scores using Pearson's chi-squared and two-sample t-tests. Results: We included 140 participants (mean age 56 [SD 12] years, 99% female, 86% White, 84% college educated, 59% with a first- or second-degree relative with breast cancer, 26% with limited/marginal health literacy). Most patients recalled receiving a negative or VUS result (89%) and correctly reported that their result suggested that their breast cancer was not inherited (91%). The mean MICRA score was 16.2 (SD 13.2, score range 0-95, higher scores indicate worse psychosocial impact) and DRS score was 3.6 (SD 8.9, score range 0-100, higher scores indicate more decision regret). Lower health literacy was significantly associated with worse GT-related psychosocial impact (mean MICRA score 21.7 [SD 19.7] for limited/marginal health literacy vs. mean 14.3 [SD 9.3] for adequate health literacy, p = 0.003). There were no significant associations between health literacy and GT-related recall and decision regret. Conclusions: Most patients with breast cancer who received negative or VUS results through a mainstreaming model demonstrated accurate GT recall and low decision regret, but patients with lower health literacy experienced worse GT-related psychosocial impact. Future studies should validate these findings in more racially and educationally diverse populations and inform interventions to support patients with lower health literacy who undergo germline GT through mainstreaming models.