Abstract: FR-PO629
Developing Best Practices for Returning Genetic Results to Participants in Nephrology Research: A Study of the CureGN Network
Session Information
- Genetic Diseases: Tubulopathies
November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Milo Rasouly, Hila, Columbia University Irving Medical Center, New York, New York, United States
- Vena, Natalie, Columbia University Irving Medical Center, New York, New York, United States
- Elliott, Mark, Columbia University Irving Medical Center, New York, New York, United States
- Bogyo, Kelsie, Columbia University Irving Medical Center, New York, New York, United States
- Kuiper, Janneke M.L., Columbia University Irving Medical Center, New York, New York, United States
- Marasa, Maddalena, Columbia University Irving Medical Center, New York, New York, United States
- Kolupaeva, Victoria, Columbia University Irving Medical Center, New York, New York, United States
- Modi, Zubin J., University of Michigan, Ann Arbor, Michigan, United States
- Gharavi, Ali G., Columbia University Irving Medical Center, New York, New York, United States
- Sabatello, Maya, Columbia University Irving Medical Center, New York, New York, United States
Background
Returning genetic results (RoR) from research is a growing practice aiming to improve patient care and to serve as a trust-building measure by showing reciprocity in health research. No guidelines for RoR in nephrology research currently exist, leading to diverse practices across research sites which limits the ability to understand the impacts of RoR on research participants. We developed a workflow for RoR in the Cure Glomerulonephropathy Network (CureGN) and a study to assess its implementation and the medical and psychosocial impacts of RoR.
Methods
Genome sequencing was performed on 1957 CureGN participants. We identified 3 variants' groups: variants consistent with kidney diseases; APOL1 high risk genotypes; and variants in actionable genes per ACMG/AMP's guidelines.
A multidisciplinary team developed a framework for RoR, assessed its acceptability and barriers via a survey with nephrologists, followed by webinars with nephrologists, research participants and parents of pediatric participants, refined and finalized the workflow. We developed pre- and post-RoR surveys for parents, research participants (adults and adolescents), and treating nephrologists to assess satisfaction, medical and psychosocial impacts of the RoR, and barriers for Post-RoR care. With an NIDDK grant, the RoR is free to CureGN participants.
Results
Based on findings from the nephrologists’ survey and webinars, we will return the 3 variants' groups. A centralized RoR workflow is implemented by Columbia University (CU) and the CureGN Data Coordinating Center (DCC) at the University of Michigan. Given privacy protections, we instituted a multistep process to inform participants with positive results (n=270): CU will share relevant CureGN IDs with the DCC to inform sites on who to invite for RoR. Interested participants will contact CU’s genetic counselors (GCs) to discuss the RoR study, consent and provide a DNA sample for clinical confirmation. GCs will return the results to participants and their nephrologists, add them to the medical records, and send out the surveys.
Conclusion
Findings will inform about the feasibility of, and best practices for, RoR in a large, racially and ethnically diverse Network and will be generalizable to other consortia.
Funding
- NIDDK Support