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Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic
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...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier Masson SAS.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654320/ https://www.ncbi.nlm.nih.gov/pubmed/33186762 http://dx.doi.org/10.1016/j.ejmg.2020.104098 |
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author | Benusiglio, Patrick R. Korenbaum, Clément Vibert, Roseline Ezenfis, Joël Geoffron, Sophie Paul, Charlotte Richard, Sandrine Byrde, Veronique Lejeune, Manon Guillerm, Erell Basset, Noemie Lotz, Jean-Pierre Chabbert-Buffet, Nathalie Gligorov, Joseph Coulet, Florence |
author_facet | Benusiglio, Patrick R. Korenbaum, Clément Vibert, Roseline Ezenfis, Joël Geoffron, Sophie Paul, Charlotte Richard, Sandrine Byrde, Veronique Lejeune, Manon Guillerm, Erell Basset, Noemie Lotz, Jean-Pierre Chabbert-Buffet, Nathalie Gligorov, Joseph Coulet, Florence |
author_sort | Benusiglio, Patrick R. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7654320 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier Masson SAS. |
record_format | MEDLINE/PubMed |
spelling | pubmed-76543202020-11-12 Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic Benusiglio, Patrick R. Korenbaum, Clément Vibert, Roseline Ezenfis, Joël Geoffron, Sophie Paul, Charlotte Richard, Sandrine Byrde, Veronique Lejeune, Manon Guillerm, Erell Basset, Noemie Lotz, Jean-Pierre Chabbert-Buffet, Nathalie Gligorov, Joseph Coulet, Florence Eur J Med Genet Article 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. Elsevier Masson SAS. 2020-12 2020-11-10 /pmc/articles/PMC7654320/ /pubmed/33186762 http://dx.doi.org/10.1016/j.ejmg.2020.104098 Text en © 2020 Elsevier Masson SAS. All rights reserved. Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active. |
spellingShingle | Article Benusiglio, Patrick R. Korenbaum, Clément Vibert, Roseline Ezenfis, Joël Geoffron, Sophie Paul, Charlotte Richard, Sandrine Byrde, Veronique Lejeune, Manon Guillerm, Erell Basset, Noemie Lotz, Jean-Pierre Chabbert-Buffet, Nathalie Gligorov, Joseph Coulet, Florence Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic |
title | Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic |
title_full | Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic |
title_fullStr | Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic |
title_full_unstemmed | Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic |
title_short | Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic |
title_sort | utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the covid-19 pandemic |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654320/ https://www.ncbi.nlm.nih.gov/pubmed/33186762 http://dx.doi.org/10.1016/j.ejmg.2020.104098 |
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