Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics

Gynecol Oncol. 2017 Apr;145(1):130-136. doi: 10.1016/j.ygyno.2017.01.030. Epub 2017 Feb 3.


Objective: Owing to the rapid increase in clinical need, we aimed to implement and review the performance of a mainstreaming model of germline BRCA1/2 genetic testing in eligible women with high grade non-mucinous epithelial ovarian cancer via a Genetic Counselor embedded in the gynecology oncology clinic.

Methods: The model implemented involved a specialized referral form, weekly genetics-lead multidisciplinary review of referrals, and pre- and post-test genetic counseling provided by an embedded genetic counselor during chemotherapy chair time. Performance and outcomes were retrospectively audited over the following two consecutive one year periods, including survey data on medical specialist comfort with mainstreaming and the model.

Results: Sixty-four women underwent mainstreamed BRCA1/2 testing over the two year post-implementation period with a rate of detection of BRCA1/2 pathogenic variants of 17%. The referral rate for eligible women significantly increased to over 90% (p<0.001). The median time from referral to delivery of genetic testing results was less than five months, with >90% of patients receiving results during first line chemotherapy. Genetic counseling time decreased from 120 to 54min. Cancer specialists were comfortable with the model.

Conclusions: The mainstreaming model proved effective, increasing uptake of genetic testing in eligible patients to over 90%; it was efficient for patients, genetic counselors and cancer specialists and acceptable to cancer specialists. It facilitated co-location of genetic and oncology service delivery but separation of clinical responsibility for genetic testing to a specialist genetics service, ensuring accurate and robust patient-centred care.

Keywords: BRCA1; BRCA2; Genetic testing; Mainstreaming; Ovarian cancer.

MeSH terms

  • Adenocarcinoma, Clear Cell / genetics
  • Carcinoma, Endometrioid / genetics
  • Carcinosarcoma / genetics*
  • Delivery of Health Care
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling*
  • Genetic Testing*
  • Health Services Accessibility
  • Hereditary Breast and Ovarian Cancer Syndrome / diagnosis*
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics
  • Humans
  • Medical Oncology
  • Middle Aged
  • Neoplasms, Cystic, Mucinous, and Serous / genetics*
  • Ovarian Neoplasms / genetics*
  • Referral and Consultation