A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment

Abstract

Objective Genetic counseling (GC) and germline genetic testing (GT) for BRCA1 and BRCA2 are considered standard of care for patients with high-grade, non-mucinous epithelial ovarian, fallopian tube, and primary peritoneal cancers (HGOC). We describe a universal genetic testing initiative to increase the rates of recommendation and acceptance of GC and GT to greater than 80% for patients with HGOC at our institution. Methods Data from a consecutive cohort of patients seen in our gynecologic oncology clinics between 9/1/2012 and 8/31/2015 for evaluation of HGOC were retrospectively analyzed. Data were abstracted from the tumor registry, medical records, and research databases. Descriptive statistics were used to evaluate patient characteristics and GC, GT, and PARP inhibitor use. Various clinic interventions were developed, influenced by the Plan-Do-Study-Act cycle method, which included physician-coordinated GT, integrated GC, and assisted GC referrals. Results A cohort of 1636 patients presented to the gynecologic oncology clinics for evaluation of HGOC during our study period, and 1423 (87.0%) were recommended to have GC and GT. Of these, 1214 (85.3%) completed GT and 217 (17.9%) were found to have a BRCA1 or BRCA2 mutation. Among BRCA-positive patients, 167 had recurrent or progressive disease, and 56 of those received PARP inhibitor therapy. Conclusions The rates of GC and GT recommendation and completion among patients with HGOC at our institution exceeded 80% following the implementation of a universal genetic testing initiative. Universal genetic testing of patients with HGOC is one strategy to identify those who may benefit from PARP inhibitor therapy.

Patterns and predictors of genetic referral among ovarian cancer patients at a National Cancer Institute‐Comprehensive Cancer Center

“…In previous trials, strategies including EMR changes, workflow changes, care integration, and patient and provider education have resulted in a 40% to 352% increase in rates of genetics referral. 14,15,17,18 Another approach is BRCA1/2 testing of OVCA tumor tissue. 19 Pilot testing has found somatic GT to be feasible, effective, and acceptable to patients and providers.…”

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

“…Various medical centres have different levels of human and financial resources available to support the implementation and validation of new genetic testing and/or referral practices. An American study demonstrated that even a multipronged approach, which included embedding a genetic counsellor into oncology clinics, genetics review of medical records to identify eligible patients and oncologist-ordered genetic testing, did not result in 100% genetic testing rates for patients with ovarian cancer 50. A possible solution, as an adjunct or in replacement to the current models, is the implementation of reflexive tumour testing of all non-mucinous epithelial ovarian cancers as a strategy to eliminate potential physician, patient, geographic and system barriers 16 26 51.…”

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

“…Additional roles may also include genetic risk assessment, the identification of appropriate genetic referral, referral triage, and clinician education. One Australian and three American studies were identified ( Table 4 ) [ 55 , 56 , 57 , 58 ]. All four studies reported improvements in GC referral rates for breast or ovarian cancer patients.…”