Electronic health record (EHR)-based implementation strategies and decision support for hereditary breast and ovarian cancer (HBOC) genetic testing among multiethnic women (ELISABETH) - About 5-10% of breast cancers and 10-15% of ovarian cancers are attributed to pathogenic variants (PVs) in cancer predisposition genes, such as BRCA1 and BRCA2. Identifying women with PVs in hereditary breast and ovarian cancer (HBOC) genes can inform risk management strategies, such as enhanced cancer screening, risk-reducing surgeries, and chemoprevention, which have been shown to reduce cancer incidence and mortality. There is significant underutilization of HBOC genetic testing in primary care, with women of color and lower socioeconomic status less likely to receive testing compared to their White or higher income counterparts. Barriers include lack of systematic family history intake, limited access to genetic counseling services, and lack of knowledge among patients and primary care providers (PCPs). The advent of multigene panel testing (MGPT) and rapidly evolving field of cancer genetics have added to the complexity of interpreting genetic test results. We have implemented family history screening during mammography visits and found that <5% of women eligible for HBOC genetic testing had undergone testing. To address genetic testing knowledge gaps, we have developed online decision support tools, BNAV for PCPs and RealRisks for patients, which have been rigorously tested among racially/ethnically diverse women in randomized controlled trials (RCTs). To build upon our prior work, we propose the ELISABETH (Electronic health record [EHR]-based implementation strategies and decision support for hereditary breast and ovarian cancer genetic testing among multiethnic women) study. In the UG3 Aim, we will refine and pilot test the ELISABETH evidence-informed program (EIP) to increase HBOC genetic testing among diverse women screened in primary care, including: 1) family history screening during mammography and gynecology visits among women, age 21-75 years; 2) automated notifications to PCPs and patients who screen positive via the EHR and patient portal, respectively; 3) integration of RealRisks and BNAV into clinical workflow; 4) EHR order sets for HBOC genetic counseling referrals and point-of-care MGPT; 5) facilitation of follow-up care for cancer risk management. During the UG3 pre-implementation phase, we will: 1) convene a Stakeholder Engagement Committee; 2) conduct survey and interview studies of key stakeholders for feedback on our implementation strategies; 3) update content in RealRisks and BNAV; 4) pilot test the ELISABETH EIP. In the UH3 Aim, we will conduct a pragmatic hybrid effectiveness-implementation cluster RCT at 26 clinics within the NewYork-Presbyterian (NYP) network of the ELISABETH EIP vs. enhanced usual care. We will enroll 130 PCPs and 520 women, who meet family history criteria for HBOC genetic testing, from our diverse catchment area. Our primary endpoint is genetic testing uptake at 12 months. Secondarily, we will assess process measures, cancer screening and preventive health behaviors, patient-reported and implementation outcomes. To reduce health inequities, we will evaluate the ELISABETH EIP in diverse practice settings to increase HBOC genetic testing and follow-up care among multiethnic underserved women.
