Abstract P6-08-37: A new workflow for breast cancer genetic counseling referral. Experience of an public oncological reference center in Argentina
Authors: Maria Dolores Mansilla Figueroa, D Bequelman, J Cavallero, O Sturla, H Ursino, V Caceres, E Gonzalez
Journal: Cancer Research (2020)

Abstract Background: Argentina is a country with inequalities in terms of healthcare, specially in genetics diseases. The lack of knowledge about hereditary cancer, the small number of genetic counselors and the difficulty of access to genetic testing are barriers to overcome to position genetic counseling (GC) as a standard of care. Objective: Describe our experience implementing GC as a standard of care for all patients with breast cancer (BC), and propose a new workflow to optimize referral to GC. The aim is to obtain GC and genetic testing prior to the primary treatment. Methods: In January 2015, the breast cancer unit established GC as a standard of care on all their patients. The institution didn’t have GC, so a breast cancer surgeon, part of the core team, was trained in GC and the rest of the team was trained to refer patients according to international guidelines. That surgeon and a psycho-oncologist formed the breast cancer genetic counseling section (BCGCS). They have interviewed patients and their families and have supported them and their medical team all over the GC process and testing. Results: From January 2015 to December 2018, 535 patients were evaluated by the BCGCS. 63% of patients were refered by breast surgeons, 12% by clinical oncologist, 19% by other units, 1% by the patients themselves and 5% from other institutions. The average time until the first GC consultation was 35 days (1-60 days). A minimum of two GC consultations per patient were performed. 243 patients were referred for genetic testing and 280 were not (27 without criteria, 35 were not index case, 19 psychological reasons and 147 patients were requested additional information). From the 243 patients, 139 didn’t have access to genetic testing due to lack of health insurance coverage. 104 test were successfully performed: 2 exomes (2 VUS: CHEK2 and TSC2), 81 BRCA1/2 (20 positives), 8 panels (3 VUS: ATM, RECQL, STK11) and 13 family mutations (5 positives: 4 BRCA and 1 CHEK2). Only two patients had a positive BRCA test before their primary treatment, both chose a bilateral mastectomy and one of them was included in the Olympia trial. Due to the success of the BCGCS, in 2017 a gynecologist and in 2018 an oncologist were trained in GC. The first one is part of the gynecological cancer unit and the second is part of the gastrointestinal cancer unit. Conclusion: Due to the presence of trained professionals as part of core teams, those units were continuously educated in genetics. That led to more and earlier referral to GC. We propose the following workflow to achieve better and more referrals of patients to GC, optimizing time and resources. Proposed WorkflowBackground requirements: Surgeon specialized in breast cancer trained in GC and Psycho-oncologist with basic knowledge of cancer genetics. Breast unit trained in hereditary cancer and referral guidelines.-Step one) Admission to breast unit with identification of patients with genetic counseling criteria according with national and international guidelines. *-Step two) Treatment Focus Genetic Testing is needed? (metastatic breast cancer, triple negative breast cancer, breast and ovarian cancer)1) Yes (always request psycho-logical support and explain the workflow)1A) Had family history of cancer?(1Aa) Yes: request a limited panel (BRCA1 / 2, PALB2, Tp53, Pten and other gene if an other syndrome is suspected) and send it to BCGCS**(1Ab) No: request BRCA1 / 2 and PALB2 testing(1Abi) Negative result. End of process(1Abii) Positive result or VUS: send to BCGCS**2) No: send to BCGCS.*** Rapid genetic testing is strongly encouraged.** Always explain about genetic counseling process and information needed prior to consultation. Citation Format: Maria Dolores Mansilla Figueroa, D Bequelman, J Cavallero, O Sturla, H Ursino, V Caceres, E Gonzalez. A new workflow for breast cancer genetic counseling referral. Experience of an public oncological reference center in Argentina [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-37.