Abstract P2-09-24: Information preferences and short-term psychological responses to multiplex genetic testing among individuals at risk for hereditary breast cancer
Authors: Robson ME , Gaissert P , Salo-Mullen EE , Amoroso K , Sheehan M , Berliner JL , Trottier M , Arnold AG , Sekhri N , Marcell V , Siegel B , Harlan Fleischut M , Hay JL , Walsh MF , Kauff ND , Stadler ZK , Offit K , Hamilton JG 
Published: May 2016

Background: Multiplex genetic testing involves the simultaneous analysis of a panel of known cancer susceptibility genes. Although efficient and cost-effective, multiplex testing presents several challenges for patients and clinicians: these tests provide information about high and moderate penetrance genes of varying clinical utility, patients cannot choose which specific genes are tested, and multiple variants of uncertain significance can be identified at once. Multiplex testing is being increasingly integrated into clinical care, yet little is known about patients' preferences, uptake, or psychological responses to these tests.

Methods: To address this gap, we examined two data sources: Sample A) a cross-sectional clinical ascertainment of 189 patients evaluated for hereditary breast and other cancer syndromes (89% female), and Sample B) an ongoing prospective research study of multiplex testing among 194 breast cancer patients and survivors who previously received uninformative BRCA1/2 results (99% female, 84% white, ages 27-76, 60% had BRCA1/2 testing in the past year).

Results: In Sample A, 32% declined clinical multiplex testing in favor of more targeted testing. Female patients were more likely than males to decline (p=0.004). Self-reported reasons for declining included: concerns about uncertain clinical utility of moderate penetrance genes (51% of patients) and variants of uncertain significance (38%), feeling emotionally overwhelmed (23%), and not seeing the value of multiplex testing (20%). In Sample B, participants were allowed to select which information to receive from a multiplex test; 16% chose to learn less than all of the information available (e.g., not genes unrelated to breast/ovarian cancer, not genes without established clinical utility, not CDH1 or TP53). Information preferences were unrelated to demographic (age, race, time since cancer diagnosis and BRCA1/2 testing) and self-reported psychological factors (baseline genetic testing-related distress, uncertainty, and positive experiences; anxiety; depression). Participants who chose to learn all possible information reported greater concerns about their children's cancer risk than did those who chose to learn less information (p=0.01). Participants reported a small increase in both genetic testing-related distress and positive experiences from before testing to 1 week after receiving results (p&lt;0.001). In multivariable analyses controlling for baseline psychological functioning, only non-white race was consistently associated with significantly increased post-result anxiety, depression, and genetic testing-related distress and uncertainty. Participants who had BRCA1/2 testing one or more years ago also reported fewer positive experiences 1 week after receiving results.

Conclusions: Together, these findings demonstrate that a sizable minority of patients have important concerns regarding multiplex tests that may limit their uptake of this novel testing, and suggest that some patients may prefer to customize the specific risk information provided. Results also highlight characteristics of those at risk for poorer emotional outcomes following testing; these individuals may benefit from additional support in this context.

Citation Format: Robson ME, Gaissert P, Salo-Mullen EE, Amoroso K, Sheehan M, Berliner JL, Trottier M, Arnold AG, Sekhri N, Marcell V, Siegel B, Harlan Fleischut M, Hay JL, Walsh MF, Kauff ND, Stadler ZK, Offit K, Hamilton JG. Information preferences and short-term psychological responses to multiplex genetic testing among individuals at risk for hereditary breast cancer. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P2-09-24.