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Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic

Authors :
Charlotte Paul
Patrick R. Benusiglio
Jean Pierre Lotz
Erell Guillerm
Florence Coulet
Sophie Geoffron
Roseline Vibert
Sandrine Richard
Joël Ezenfis
Nathalie Chabbert-Buffet
Veronique Byrde
Noémie Basset
Joseph Gligorov
Manon Lejeune
Clément Korenbaum
CCSD, Accord Elsevier
Centre de Recherche Saint-Antoine (CRSA)
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
Service de Gynécologie-obstétrique et médecine de la reproduction - Maternité [CHU Tenon]
CHU Tenon [AP-HP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Site de recherche intégrée en cancérologie (SiRIC CURAMUS)
Institut Universitaire de Cancérologie [Paris] (IUC)
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Service d'Oncologie médicale [CHU Tenon]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Sorbonne Université (SU)
CHU Pitié-Salpêtrière [AP-HP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Centre Hospitalier Sud Francilien
Grand Hôpital de l'Est Francilien (GHEF)
Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
Centre de Recherche Saint-Antoine (CR Saint-Antoine)
Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP]
Gynécologie-obstétrique et médecine de la reproduction - Maternité [CHU Tenon]
Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Source :
European Journal of Medical Genetics, European Journal of Medical Genetics, 2020, 63, pp.104098-. ⟨10.1016/j.ejmg.2020.104098⟩, European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104098-. ⟨10.1016/j.ejmg.2020.104098⟩
Publication Year :
2020
Publisher :
Elsevier BV, 2020.

Abstract

International audience; Introduction: Mainstreamed genetic testing (MGT) obviates the need for a cancer genetics consultation, since trained oncologists (O) and gynaecologists (G) provide counseling, prescribe testing and deliver results. We report results from our MGT program and emphasize its utility during the COVID-19 lockdown, when cancer genetics clinics had suspended their activity.Methods: An MGT pathway for breast and ovarian cancer (BC/OC) patients was established in Jan-2018 between the Assistance Publique - Hôpitaux de Paris.Sorbonne Université Cancer Genetics team and the Oncology/Gynecology departments at one teaching and two regional hospitals. Trained O + G evaluated patients with the Manchester Scoring System. A 12-point threshold was recommended for testing. Next-generation sequencing of BRCA1, BRCA2, PALB2, RAD51C and RAD51D was performed. Results were delivered to the patient by O/G. Pathogenic variants (PV) carriers were referred to the genetics clinic. Results are reported for the 2nd-Jan-2018 to 1st-June-2020 period. That includes the eight-week COVID-19 lockdown and three-week de-confinement phase 1.Results: Results were available for 231/234 patients. Twenty-eight (12.1%) carried a PV. Of the 27 patients tested during the COVID-19 period, three carried a PV, two in BRCA1 and one in RAD51C. The clinical impact was immediate for the two BRCA1 BC cases undergoing neo-adjuvant chemotherapy, since double mastectomy and salpingo-oophorectomy will now be performed using two-step strategies.Conclusions: MGT guaranteed care continuity in BC/OC patients during the critical phases of the COVID-19 pandemic, with immediate implications for PV carriers. More broadly, we report for the first time the successful implementation of MGT in France.

Details

ISSN :
17697212
Volume :
63
Database :
OpenAIRE
Journal :
European Journal of Medical Genetics
Accession number :
edsair.doi.dedup.....0c239ee2a9a52e90d5d1767c80e59e61