Title: A Randomized Hybrid Type I Effectiveness-Implementation Study of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2): study protocol

Abstract

BackgroundGermline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. There are also targeted treatments for some genetic carriers with cancers such as breast and ovarian cancer. Yet, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. The eREACH 2 study (A Randomized Hybrid Type I Effectiveness-Implementation Study of an eReach Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer) evaluates whether an interactive, patient-centered digital alternative for genetic education and disclosure of results is non-inferior compared to the traditional model of pre-and post-test counseling with a genetic counselor. MethodsThis is a Hybrid Type 1 effectiveness implementation study in which participants are randomized using a 2x2 design to test a self-directed, patient-informed, digital intervention to deliver clinical genetic testing versus the traditional pre-test (visit 1) and post-test (visit 2: disclosure) counseling delivered by a genetic counselor. The 4 arms include A) genetic counselor for visit 1 and visit 2, B) genetic counselor for visit 1 and digital intervention for visit 2, C) digital intervention for visit 1 and genetic counselor for visit 2, and D) digital intervention for both visits. Participants are adults who meet National Comprehensive Cancer Network and/or American Society of Clinical Oncology guidelines for germline genetic testing and are recruited from both community and medical sites across the United States by way of clinician referral as well as patient self-referral. The primary outcomes are non-inferiority in uptake of genetic testing and change in genetic knowledge and general anxiety from baseline to post-disclosure. DiscussionWith many barriers to accessing genetic services, innovative delivery models are needed to address these gaps and increase uptake of genetic services. The eREACH2 study evaluates the effectiveness of an interactive patient-centered digital intervention to deliver clinical genetic testing. We expect this work will inform evidence-based guidelines and the standard-of-care for delivery of genetic testing and is designed to be broadly applicable and easily adaptable for other populations and settings even beyond oncology (e.g. Alzheimers disease). Trial registrationThis protocol was registered at clinicaltrials.gov (NCT05427240) on 6/7/2022.