Integration of germline multigene panel testing into breast and gynecologic oncology clinics.
Authors: Mariella Tejada, June YiJuan Hou, Katherine D. Crew, Melissa Kate Accordino, Kevin Kalinsky, Dawn L. Hershman, Ana Isabel Tergas, Caryn St. Clair, Jason Dennis Wright, Meghna S. Trivedi
Journal: Journal of Clinical Oncology (2021)

164 Background: Germline genetic testing plays an important role in informing cancer screening and risk-reducing strategies, as well as treatment decisions with PARP inhibitors for BRCA-associated malignancies. Referrals to clinical genetics for pre-test counseling and results disclosure can be delayed due to financial and logistical barriers, which may ultimately delay clinical decision-making. Our study objective was to understand patient attitudes, knowledge, and anxiety/distress with point-of-care (POC) genetic testing in breast and gynecologic oncology clinics. Methods: We enrolled patients with early-stage breast cancer undergoing neoadjuvant treatment, metastatic breast cancer, ovarian cancer, or endometrial cancer undergoing POC multigene panel testing with their primary oncologist, rather than a genetic counselor. Pre-test counseling came from discussion with their primary oncologist. Participants completed a survey at time of genetic testing and one after return of genetic test results. Validated measures of genetic testing knowledge, cancer-related distress, and attitudes towards genetic testing were included. Descriptive statistics were generated for all data collected and paired t-tests were conducted for baseline and follow-up comparisons. Results: We enrolled 106 subjects, of which 97 completed the baseline survey. All participants were female with a mean age of 61.5 years (SD 13.5). The cohort consisted of participants with the following tumor types: 80 breast, 2 ovarian, and 16 endometrial. Almost 44% of women identified as Hispanic/Latina, 55% had highest level of education of community/technical college or less, and 51.2% reported annual incomes of less than $50,000. Forty-seven percent of participants had adequate baseline genetic testing knowledge scores (defined as at least 50% correct responses). A majority of participants (86.6%) had positive attitudes toward undergoing genetic testing. Results of genetic testing revealed 11 participants (11.3%) with pathogenic or likely pathogenic variants (of which 36.3% were in BRCA1/2), 25 (25.8%) with variants of unknown significance (VUS), and 61 (62.9%) with benign or likely benign results. The mean cancer-related distress score (scale from 15 to 60, higher score indicates higher levels of distress) was 32.78 (SD 9.74) at baseline and 26.5 (SD 8.9) after receiving genetic testing results (p = 0.002). Genetic test results informed cancer treatment decisions regarding medications and surgery in 15% and 13% of patients, respectively, the majority of which were breast cancer patients. Conclusions: As genetic testing is more frequently used for clinical decision-making it is important to develop ways to efficiently integrate POC testing in the oncology clinics. We demonstrated that POC genetic testing for breast and gynecologic cancers is feasible and can inform clinical decision-making.