Eliminating barriers to uptake of germline genetic testing for patients with advanced cancer: the GTAC study

Background As germline genetic testing indications expand, barriers to testing persist. We evaluated the feasibility of a novel approach in which patients with cancer underwent genetic testing first, with follow-up genetic counseling only for those found to have a germline pathogenic variant (PV). Methods Patients with advanced solid tumors who were <1 year from diagnosis were recruited. Participants received germline multi-gene panel testing after providing informed consent. Results were communicated by a research coordinator if negative and by a genetic counselor if a PV or variant of uncertain significance (VUS) was identified. Participants testing positive were scheduled for a genetic counseling visit. Participants and providers completed follow-up satisfaction surveys. Time to genetic test results was compared with a control group of patients undergoing genetic testing as recommended per standard of care. Results 125 patients were identified as eligible and 91 (73%) enrolled. Participants had a mean age of 65 years (SD: 12.8), 68% were male and 25% resided in a rural area. A PV was identified in 13 participants (14%), of whom 10 (77%) had a follow up genetics visit, 2 (15%) declined follow up genetic counseling, and 1 (8%) died before being seen. Of the 91 participants, 81% completed the satisfaction survey; 95% reported feeling content with undergoing genetic testing, 93% appreciated having testing incorporated into an existing appointment. All 16 providers were satisfied with the process. This approach resulted in shorter time to genetic testing compared with controls who underwent standard pretest genetic counseling (difference: −43 days, 95% CI: −62, −23); this difference was somewhat stronger for patients in rural settings. Of the 10 participants who tested positive for a PV and met with a genetic counselor, 50% ( n = 5) had a first-degree relative undergo cascade testing. Conclusions A point-of-care germline genetic testing model with post-test genetic counseling for patients with positive results was acceptable to patients and providers, improved timeliness of testing, and was associated with high patient satisfaction and moderate rates of cascade testing. This streamlined approach may reduce barriers to germline genetic testing while preserving genetic counseling resources for patients with positive results.