RESPECT3: A Randomized type 1 hybrid Effectiveness-implementation Study of returning actionable genetic PanEl researCh resulTs

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Large prospective cohort studies with banked DNA have increasingly utilized next generation sequencing (NGS) to evaluate the effects of genes, the environment and lifestyle on health outcomes, but NGS can also identify actionable genetic variants that may significantly impact the future health of the research participant and/or their relatives. How best to educate participants about their options to decline or receive research results, how to honor preferences for receipt of results, and how to best communicate results, particularly in large cohorts remains unknown. In the RESPECT studies (R01 CA190871:Bradbury), we have developed and established the feasibility and favorable patient-reported outcomes with using an eHealth education and consent intervention as an alternative to traditional pre-disclosure genetic counseling. The goal of the proposed competitive renewal is to conduct a Hybrid Type 1 effectiveness-implementation study to evaluate eHealth delivery alternatives for pre-disclosure education and return of actionable genetic research results. Building upon the RESPECT studies (R01 CA190871: Bradbury), we will adapt our RESPECT eHealth pre- disclosure intervention to offer 1250 Penn Biobank participants (625 with actionable results and 625 controls) a chatbot enabled eHealth education intervention (eHealthED) that provides information about the benefits and limitations of receiving research results, how results will be returned and their options for declining receipt of results (Aim 1). In Aim 2, we will randomize participants with actionable research results to receive their results via telephone with a GC (usual care) or a stakeholder-informed and user-tested chat-bot enabled eHealth return of results intervention (eHealthROR). All participants randomized to eHealthROR (e.g. intervention arm) will be provided the option to speak with a GC as an alternative, before or after receiving results. Concurrently, we will conduct a CFIR (Consolidated Framework for Implementation Research)-informed process evaluation to understand moderators of eHealth intervention usage, patient outcomes, costs and facilitators and barriers to future implementation and sustainability of using eHealth interventions for return of actionable genetic research results in large and sociodemographically diverse research cohorts (Aim 3). We hypothesize that the majority of participants will access supplemental eHealth and chatbot enabled education and that disclosure of actionable research results by our eHealth intervention will result in non-inferior short-term and longitudinal patient cognitive, affective and behavioral outcomes and lower costs, providing a scalable model for returning actionable results to research participants in large biobanks. Thus, we expect this study to inform evidence- based practice guidelines for return of actionable genetic research results to participants.