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Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic
- 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.
- Subjects :
- Male
Genetic testing
[SDV]Life Sciences [q-bio]
medicine.medical_treatment
Breast cancer
0302 clinical medicine
Pandemic
Young adult
Mastectomy
Genetics (clinical)
Neoadjuvant therapy
Aged, 80 and over
Ovarian Neoplasms
0303 health sciences
medicine.diagnostic_test
BRCA1 Protein
030305 genetics & heredity
High-Throughput Nucleotide Sequencing
General Medicine
Middle Aged
Neoadjuvant Therapy
3. Good health
[SDV] Life Sciences [q-bio]
DNA-Binding Proteins
030220 oncology & carcinogenesis
Hereditary Breast and Ovarian Cancer Syndrome
Female
Fanconi Anemia Complementation Group N Protein
Adult
Paris
medicine.medical_specialty
Genetic counseling
Salpingo-oophorectomy
Breast Neoplasms
Genetic Counseling
Article
Young Adult
03 medical and health sciences
Ovarian cancer
Internal medicine
Genetics
medicine
Humans
Genetic Predisposition to Disease
Pandemics
Aged
BRCA2 Protein
business.industry
COVID-19
medicine.disease
business
Subjects
Details
- ISSN :
- 17697212
- Volume :
- 63
- Database :
- OpenAIRE
- Journal :
- European Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....0c239ee2a9a52e90d5d1767c80e59e61