Kimberley T Lee

An eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Patients With Metastatic Cancers: Protocol for a Randomized Trial

Background Germline BRCA1 and BRCA2 testing is a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. With Food and Drug Administration approval for poly (adenosine diphosphate ribose) polymerase (PARP) inhibitors in patients with metastatic breast, ovarian, pancreatic, and prostate cancer, there is an additional therapeutic rationale for testing all patients with these cancers for germline BRCA1 and BRCA2 mutations. However, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. Objective The eREACH (A Randomized Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Predisposition in Metastatic Breast, Ovarian, Prostate, and Pancreatic Cancer Patients) study evaluates the effectiveness of a theoretically and stakeholder-informed eHealth (eg, digital) delivery alternative to traditional genetic counseling for patients with metastatic breast or prostate cancer or advanced or metastatic ovarian or pancreatic cancer referred for genetic testing to determine whether they are candidates for a PARP inhibitor. Methods The eREACH study is a randomized noninferiority study using a 2 × 2 design to test a self-directed digital intervention to deliver clinical genetic testing for patients with metastatic cancers. The traditional standard-of-care pretest (visit 1) and posttest (visit 2—disclosure) counseling delivered by a genetic counselor is replaced with our patient-informed digital intervention. The four arms were as follows: arm A, genetic counselor for visits 1 and 2; arm B, genetic counselor for visit 1 and digital intervention for visit 2; arm C, digital intervention for visit 1 and genetic counselor for visit 2; and arm D, digital intervention for both visits. Participants were adults with advanced or metastatic breast, ovarian, pancreatic, and prostate cancer. The primary outcomes of this study were change in genetic knowledge and anxiety from baseline to postdisclosure assessment. We will test whether the digital intervention is noninferior to standard-of-care counseling with a genetic counselor using a modified noninferiority ANOVA of the posttest disclosure minus baseline change scores. In secondary analyses, we will test pairwise differences among the 4 groups. Results As of January 2025, we have completed enrollment of 229 participants. Data analysis is ongoing, and we expect the results to be published in 2025. Conclusions Increasing indications for BRCA1 and BRCA2 testing create a pressing need to evaluate alternative delivery models to increase access and uptake of these tests while maintaining adequate patient cognitive, affective, and behavioral outcomes. The eREACH study evaluates the effectiveness of an interactive, patient-centered digital intervention to deliver clinical genetic testing to patients with metastatic cancers. We expect that this work will inform evidence-based guidelines and the standard of care for delivery of genetic testing, and it is designed to be broadly applicable and easily adaptable for other populations and settings even beyond oncology. Trial Registration ClinicalTrials.gov NCT04353973; https://clinicaltrials.gov/study/NCT04353973 International Registered Report Identifier (IRRID) DERR1-10.2196/72515

A mixed-methods study characterizing experiences of medical oncologists’ use of gonadotropin-releasing hormone agonists for treatment of breast cancer

Abstract Purpose The use of ovarian function suppression (OFS) for the treatment of breast cancer in pre-menopausal women is low and little is known about medical oncologist’ attitudes toward current guidelines pertaining to the use of OFS. This purpose of this study was to explore breast medical oncologists’ perceptions and use of gonadotropin-releasing hormone agonists as OFS for treatment of early-stage breast cancer. Methods A quantitative survey exploring experiences with OFS was distributed to medical oncologists across the USA using mailing lists available through the American Medical Association. Survey responses were characterized using descriptive statistics. Results Oncologists in this study reported high likelihood of recommending OFS for pre-menopausal women at high risk for recurrence of hormone receptor-positive early-stage breast cancer. In addition to tumor size, nodal involvement, and 21-gene recurrence scores, administration of chemotherapy was a strong surrogate for risk of recurrence. Concerns about treatment toxicity and patient hesitancy were the top barriers to OFS utilization. Oncologists also reported low confidence in their ability to determine menopausal status in the setting of amenorrhea post-chemotherapy (9% reported feeling very confident with this task) and to monitor ovarian function while on OFS. Conclusion Oncologists reported strong agreement with established guidelines for the use of OFS in the treatment of early-stage hormone receptor-positive breast cancer. However, our findings indicate a need for guidance regarding the determination of menopausal status in the setting of amenorrhea and monitoring of ovarian function.