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

Eur J Med Genet. 2020 Dec;63(12):104098. doi: 10.1016/j.ejmg.2020.104098. Epub 2020 Nov 10.


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.

Keywords: Breast cancer; COVID-19; Genetic counseling; Genetic testing; Hereditary breast and ovarian cancer syndrome; Ovarian cancer.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / surgery
  • COVID-19 / epidemiology*
  • DNA-Binding Proteins / genetics
  • Fanconi Anemia Complementation Group N Protein / genetics
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mastectomy
  • Middle Aged
  • Neoadjuvant Therapy
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / surgery
  • Pandemics*
  • Paris / epidemiology
  • Salpingo-oophorectomy
  • Young Adult


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human
  • DNA-Binding Proteins
  • Fanconi Anemia Complementation Group N Protein
  • PALB2 protein, human
  • RAD51C protein, human
  • RAD51D protein, human