Eliminating barriers to uptake of germline genetic testing for patients with advanced cancer: The GTAC study.
Authors: Landry Kara K. , Feldman Heather M , Nowak Sarah A , Taylor Hannah L , Johns Marie , McKinnon Wendy , Colello Laura S , Nielsen Sarah M. , Esplin Edward D. , Greenblatt Marc , Wood Marie 
Published: June 2023

10617

Background: Identification of pathogenic germline variants (PGVs) is important in guiding treatment decisions, cancer screening and testing of family members. While genetic testing indications expand, barriers to testing still exist. Streamlined processes for genetic testing are needed. Our study assessed the feasibility of a novel approach in which patients with cancer underwent genetic testing first with genetic counseling after for only those with a PGV. Methods: This was an IRB approved study of patients with metastatic solid tumors within < 1 year of diagnosis. Participants were referred by their oncologist and underwent germline testing with an 84-cancer gene panel after signing informed consent. Results were called to patients by a research coordinator if testing was negative and by a genetic counselor if found to have a variant of uncertain significance. Patients with a pathogenic germline variant (PGV) were called by the genetic counselor and scheduled to meet with the genetics team for full counseling. All patients received a letter documenting results and implications. Patient and provider satisfaction surveys were administered in follow-up. Results: 125 patients were eligible and 91 enrolled. Reasons for lack of participation included: early death or decline in health (n = 11, 32.4%). The mean age of patients was 66 (SD 12.6). 60 (65.9%) were male and 43 (47.3%) resided in a rural area. Cancer types represented included: GI (n = 27, 16.5%), lung (n = 22, 13.4%), prostate (n = 19), and renal (n = 4). A PGV was identified in 13 (14.8%) participants. 10 (76.9%) had follow up with a genetic counselor, 2 (15.4%) declined and 1 (7.7%) died prior to being seen. PGVs identified include: MUTYH (n = 5), MITF (n = 2), CHEK2 (n = 2), WRN (n = 1), RAD51D (n = 1), CDH1 (n = 1), NTHL1 (n = 1). 74 (81.3%) participants completed the survey. The vast majority appreciated having undergone testing (n = 70, 94.6%) and having testing incorporated into an existing appointment (n = 69, 93.2%). 61 (82.4%) participants felt confident in their understanding of the results. All providers (n = 16, 100%) were satisfied with this testing process and most (n = 15, 93.8%) felt that genetic test results were obtained in a timelier fashion and reported interest in continuing this testing process. 5 (38.5%) patients with PGVs had a first degree relative undergo cascade testing within 6 months of results. Conclusions: We show that this paradigm shifting process of testing first and counseling after is feasible and acceptable for cancer patients with high rates of cascade testing. Patients and providers report high satisfaction with this process. This process removes known barriers to testing, such as extra clinic visits and time delays to testing. Further use of this process will require delivering education to patients prior to testing and ensuring that providers are comfortable ordering testing.