Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants

Abstract

IntroductionReturning research-based genetic results (gRoR) to participants in nephrology research can improve care but the practice raises implementational questions and no established guidelines for this process currently exists. Nephrologists' views on this issue can inform the process but are understudied. MethodsWe developed a conceptual workflow for gRoR from literature and experience, covering aspects such as which results to return, how, and by whom. We surveyed U.S. nephrologists to gauge their views on the workflow and anticipated barriers and collected participants' demographics including professional backgrounds. ResultsA total of 201 adult and pediatric nephrologists completed the survey. Most agreed that all diagnostic kidney-related results (93%), secondary findings (80%), and kidney-related risk variants (83%) should be returned. No significant differences were found between adult and pediatric nephrologists’ responses, except that 48% of adult nephrologists vs. 26% of pediatric nephrologists supported returning polygenic risk scores (p<0.01). Seventy-nine percent wanted to know about research results before clinical confirmation. Most (63%) believed a genetic counselor should return clinically confirmed results. Key barriers included the cost of clinical validation (77%) and unavailability of genetic counseling services (63%). Facilitators included educational resources on genetic kidney diseases (91%), a referral list of experts (89%), and clear clinical care guidelines (89%). We discuss findings’ implications and provide “points-to-consider”. ConclusionThere is significant interest in gRoR among nephrologists, but logistical and economic concerns need addressing. Identified facilitators can help large nephrology studies planning to return genetic results to participants.