233P - Germline genetic testing before formal counseling: Impact in cancer management in a Spanish university hospital

Background

Performing rapid genetic testing before consultation in a Hereditary Cancer Unit (HCU) is becoming increasingly common due to its importance in the decision-making of cancer management. There are few studies analyzing this new genetic counseling approach.

Methods

We conducted a retrospective descriptive study in a cohort of patients (pts) who underwent germinal genetic testing during their treatment plan at Hospital Gregorio Marañon since April 2019 to November 2022. Tests were directly ordered by their oncologists with a brief pre-test counseling prior to the formal evaluation in the HCU. Primary objective was to analyze if having these results available prior to formal genetic counseling could impact in the management of the patient’s cancer.

Results

225 pts (32.9% men, 67.1% women) underwent genetic test. Cancer diagnoses were: pancreatic (49.3%), breast (40.4%), ovarian (5.8%), colorectal (2.6%), gastric (2.6%), prostate (1.3%), cholangiocarcinoma (1.3%), renal (1.3%) and endometrial 0.9%. A specific-syndrome genetic panel was performed in 55.1%, multigenetic in 44% and single gene in 0.9%. We found pathogenic/likely pathogenic variants (PV/LPV) in 31 pts (13.8%) and variants of unknown significance (VUS) in 53 (23.5%). 22.6% of the pts with PV/LPV (n=7) didn't meet the Spanish Society for Medical Oncology (SEOM) criteria for hereditary cancer. 40% of the pts (n=90) didn´t receive post-test counseling in the HCU: 81.1% due to negative result and non-significant familial background, 10% due to patient's death, 4.4% did not attend the appointment (rest unknown). According to retrospective chart review in 32.3% with PV/LPV (n=10; 4.4% of the total) a change in cancer management was decided (Table). Table: 233P

*One patient could have more than one change

Conclusions

Genetic testing performance can modify the therapeutic plan of pts with cancer, especially for those with PV/LPV. Rapidity in obtaining the results is essential. The balance between this rapidity and a proper post-test genetic counseling needs to be warranted.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

Hospital General Universitario Gregorio Marañon.

Funding

Fondo de Investigación Sanitaria (FIS): PI18/01775.

Disclosure

M. Bringas Beranek: Financial Interests, Personal, Invited Speaker: Amgen; Other, Training: Pfizer, Lilly. I. Echavarria Diaz-Guardamino: Financial Interests, Personal, Advisory Board: Lilly, AstraZeneca; Financial Interests, Personal, Speaker’s Bureau: Pfizer, Novartis, Roche; Financial Interests, Personal, Writing Engagement: Pierre Fabre. A.J. Munoz Martin: Financial Interests, Personal, Speaker’s Bureau: Rovi, Stada, Menarini, Amgen, Merck; Financial Interests, Institutional, Funding: Rovi, Celgene, Leo Pharma; Financial Interests, Personal, Other: AstraZeneca, Roche. L. Ortega Morán: Financial Interests, Personal, Speaker’s Bureau: Rovi, Leo Pharma, Menarini, Servier. B. Herrero Lopez: Financial Interests, Personal, Other: Roche, Novartis, PharmaMar, Eisai, Teva, Kyowa Kirin, AstraZeneca, GSK. Y. Jerez Gilarranz: Financial Interests, Personal, Speaker’s Bureau: Daiichi Sankyo, Pfizer, Novartis, Gilead, Lilly. S. Lopez-Tarruella Cobo: Financial Interests, Personal, Advisory Board: AstraZeneca, Daiichi Sankyo, Pfizer, Novartis, Lilly, Gilead, GSK, Roche, Pierre Fabre, Seagen, Menarini_Stemline, Gebro Pharma; Non-Financial Interests, Member of Board of Directors: Geicam, SEOM. A. Veiga Fernández: Financial Interests, Personal, Other, Book chapter: Amazing Books. M. Martin Jimenez: Financial Interests, Personal, Advisory Board: AstraZeneca, Lilly, Roche/Genentech, Daiichi Sankyo, Menarini-Stemline; Financial Interests, Personal, Invited Speaker: Pfizer, AstraZeneca, Lilly, Novartis, Roche/Genentech; Financial Interests, Institutional, Research Grant: Novartis, Roche, Puma; Non-Financial Interests, Member of Board of Directors: TRIO; Non-Financial Interests, Leadership Role: Geicam; Non-Financial Interests, Member: ASCO; Non-Financial Interests, Advisory Board: SEOM. I. Marquez-Rodas: Financial Interests, Personal, Advisory Board: BMS, MSD, Novartis, Pierre Fabre, Roche, GSK, AstraZeneca, Celgene, Regeneron, Sanofi, Merck Serono, Highligth Therapeutics, Bioline Rx, Sun Pharma, Immunocore; Financial Interests, Personal and Institutional, Coordinating PI, GEM1802 clinical trial: Pierre Fabre; Financial Interests, Institutional, Coordinating PI, GEM1801 clinical study: Novartis, BMS, Roche, Pierre Fabre, Incyte, MSD; Financial Interests, Institutional, Coordinating PI, National coordinator of Spotlight 203 clinical trial: Highlight Therapeutics; Non-Financial Interests, Member of Board of Directors: Spanish Melanoma Group. All other authors have declared no conflicts of interest.