Pathogenic mutations in some genes elevate women's breast cancer risk, necessitating risk-reduction strategies. Unfortunately, women are underscreened for cancer risk, and when identified as ...potentially high risk, women seldom pursue genetic counseling or testing. To improve cancer risk management, this project determined the feasibility of radiology-operated, proactive, same-day risk assessment and genetic testing programs to diagnose high-risk women undergoing breast imaging.
The Comprehensive Assessment, Risk & Education Program launched on June 5, 2019. Data was tracked through July 22, 2020. Women undergoing breast imaging completed questionnaires that calculated Tyrer-Cuzick risk and assessed genetic testing eligibility using National Comprehensive Cancer Network criteria. To encourage eligible women's genetic testing adherence, pretest counseling and saliva sample collection occurred that same day in the imaging center. Samples were tested by a 34-multigene panel. Genetic counselors called women with positive results. Women with negative results or variants of uncertain significance were mailed notifications. Summary statistics were calculated.
A total of 3345 women completed questionnaires. 1080 (32.3%) met genetic testing criteria. 468/1080 (43.3%) submitted genetic samples, and 416/1080 (38.5%) completed testing. Of 416 completed tests, 269 (64.7%) tested negative, 109 (26.2%) had variants of uncertain significance, and 38 (9.1%) diagnosed pathogenic mutations. 13/38 (34.2%) women with pathogenic mutations implemented risk-reduction strategies at our institution.
Breast imaging centers can operate same-day cancer risk assessment and genetic testing programs, identifying high-risk women that conventional risk assessment methods may not have diagnosed. These proactive programs add value to radiology departments' cancer care beyond traditional imaging services.
Breast cancer remains the second most diagnosed cancer in women worldwide and the number one cause of cancer in women in the United States. It is unfortunately the primary cause of cancerrelated ...deaths among women, with 14% of all cancer deaths attributed to it. Over the past decade, screening methods have matured, and imaging modalities are continuously improving.
Screening mammograms remain the only modality that have been shown to improve breast cancer survival, however, more modalities like MRI, abbreviated MRI, and CT mammography are gaining in momentum.
Now more than ever, providers need to identify the patient population that is at an elevated risk for breast cancer to offer them a personalized screening approach specific to their empiric risk. In this paper we shed light on risk factors of breast cancer and summarize risk assessment tools that have been recently incorporated in assessing a woman's risk of breast cancer.
We also summarize new genetic testing strategies and their implications in prevention of breast cancer. And finally, we offer a personalized approach to management of women with agenetic predisposition as well as to women at elevated risk but without a genetic mutation. The hope is to identify women at increased risk and perfect a "personalized screening approach" for breast cancer.
Program evaluation can identify the successes and challenges of implementing clinical programs, which can inform future dissemination efforts. A cancer genetics improvement program, disseminated from ...the Lead Team's institution to five health systems (Participating Sites), was genetic counselor led, using virtual implementation facilitation to support Participating Sites' performance of quality improvement (QI) activities over several years. Program implementation and outcome evaluations were performed and included evaluation of program delivery and initial effects of the program on Participating Sites. A logic model guided evaluation of program implementation (inputs, activities, outputs, delivery/fidelity, and coverage/reach) and initial outcomes (short‐term and intermediate outcomes). Data were collected from program documents and an Evaluation Survey of Participating Site team members (21 respondents), compared against the Lead Team's expectations of participation, and analyzed using descriptive statistics. All program inputs, outputs, and activities were available and delivered as expected across the five Participating Sites. The most frequently used activities and inputs were facilitation‐associated meetings and meeting resources, which were rated as useful/helpful by the majority of respondents. Nearly all respondents noted improvement in short‐term outcomes following participation: 82.4% reported increased awareness of clinical processes, 94.1% increased knowledge of QI methods, 100% reported increased perceived importance of QI, 94.1% increased perceived feasibility of QI, and 76.5% reported increased problem‐solving skills and self‐efficacy to use QI at their site. Intermediate outcomes (identifying barriers, developing interventions, improved teamwork, and capacity) were achieved following program participation as indicated by the results of the program document review and Evaluation Survey responses. Implementation challenges at Participating Sites included staffing constraints, difficulties obtaining buy‐in and participation, and developing interventions over time. The multi‐site improvement program was delivered and implemented with high levels of fidelity and resulted in improved short and intermediate outcomes. Future research will evaluate long‐term, patient‐level outcomes associated with site‐specific QI interventions.
A quality improvement initiative (QII) was conducted with five community-based health systems' oncology care centers (sites A–E). The QII aimed to increase referrals, genetic counseling (GC), and ...germline genetic testing (GT) for patients with ovarian cancer (OC) and triple-negative breast cancer (TNBC).
QII activities occurred at sites over several years, all concluding by December 2020. Medical records of patients with OC and TNBC were reviewed, and rates of referral, GC, and GT of patients diagnosed during the 2 years before the QII were compared to those diagnosed during the QII. Outcomes were analyzed using descriptive statistics, two-sample t-test, chi-squared/Fisher's exact test, and logistic regression.
For patients with OC, improvement was observed in the rate of referral (from 70% to 79%), GC (from 44% to 61%), GT (from 54% to 62%) and decreased time from diagnosis to GC and GT. For patients with TNBC, increased rates of referral (from 90% to 92%), GC (from 68% to 72%) and GT (81% to 86%) were observed. Effective interventions streamlined GC scheduling and standardized referral processes.
A multi-year QII increased patient referral and uptake of recommended genetics services across five unique community-based oncology care settings.
•A coordinated quality improvement initiative was completed in five community-based health system oncology care centers.•Referral, genetic counseling, and genetic testing improved for patients with ovarian and triple-negative breast cancer.•Average time to completion of genetic testing for patients with ovarian cancer significantly decreased at almost all sites.•The most effective quality improvement interventions standardized genetic counseling referral and delivery processes.
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