ABSTRACT
Background: Cancer genetics clinics are struggling to cope with increasing referrals of breast and ovarian cancer (BC/OC) patients. The approval of anti-PARP for cases with germline BRCA1/2 pathogenic variants (PV) and the associated necessity for the oncologist to receive results rapidly are compounding these difficulties. Mainstreamed genetic testing (MGT) via oncologists and gynecologists obviates the need for a genetics consultation for most patients, as only complex cases and PV carriers are referred. We report results from an MGT project involving a Paris University hospital and two regional hospitals, and show how MGT guaranteed care continuity during the COVID-19 pandemic. Methods: Oncologists and gynecologists participated voluntarily. They were sent an e-learning module summarizing the principles of genetic susceptibility to BC/OC, patient selection, consent, carrier management, and highlighting the importance of cascade testing in relatives. A computerized and adapted version of the Manchester Scoring System was used for patient selection. Only index cases with cancer and aged > 30 were included. The oncologist or gynecologist provided basic genetic counseling and gave patients an information sheet. A single academic laboratory performed all analyses. Results: During the 01.2018 – 05.2020 period, MGT was carried out in 244 patients with an average age of 51. PV detection rate in the BRCA1/2, PALB2, and RAD51C/D major genes was 11%. All carriers were subsequently seen by a cancer geneticist. Whenever possible, patients with negative results were discussed at a multidisciplinary meeting involving a geneticist or a genetic counselor. 27 of the reported patients had MGT during the 8-week COVID-19 lockdown. Conclusions: We report the successful implementation of MGT in France for BC/OC patients. It allowed for immediate testing at their point of care of eligible patients. Results were rapidly returned, and all PV carriers were seen by a cancer geneticist. The PV detection rate was similar to rates observed using traditional testing pathways. Of note, MGT guaranteed continuity of care during the COVID-19 lockdown, when all medical activity considered nonessential, including cancer genetics, was drastically reduced. Legal entity responsible for the study: The authors. Funding: Has not received any funding. Disclosure: All authors have declared no conflicts of interest.