Abstract: SA-PO403
Designing a Return of Genetic Results Workflow in Nephrology: Lessons Learned from a Pilot Study
Session Information
- Genetic Diseases of the Kidney - III
November 09, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Nestor, Jordan Gabriela, Columbia University, New York, New York, United States
- Marasa, Maddalena, Columbia University, New York, New York, United States
- Milo Rasouly, Hila, Columbia University, New York, New York, United States
- Gharavi, Ali G., Columbia University, New York, New York, United States
Background
Genetic testing is an emerging tool in nephrology practice. Actionable genetic findings can be identified as part of research or clinical care. However, no best practice exists for return of results (ROR) and clinical implementation of results, for renal patients.
Methods
We developed a workflow for ROR of primary diagnostic and/or medically actionable (secondary) findings for adults with all-cause chronic kidney disease, who underwent exome sequencing, through participation in a biobank study.
Results
We attempted to re-contact a diverse group of 50 participants with potentially diagnostic findings. Among them, 36 were contacted and we returned actionable genetic findings to 23 individuals. We identified 6 major elements in the ROR workflow for research participants: subject identification; re-contact; pre-test counseling for clinical testing; retesting for secondary validation; return of results with post-test counseling; and clinical implementation. We identified over 20 major challenges to ROR, which were iteratively addressed to optimize the workflow. Some common challenges included changes of address, death, lack of insurance for clinical validation of genetic data, lack of interest in receiving actionable findings, unwillingness to contact at-risk relatives, access to genetic counseling, and lack of standardized tools for patients and physician education. Importantly, the genetic result meaningfully impacted the clinical care of all cases.
Conclusion
The lessons learned from this study provide valuable information for return of genetic result in the setting of clinical care and research for nephropathies.
Figure 1: Iterative changes to workflow led to standardized approach for return of actionable genetic findings to nephrology research participants
Funding
- Other NIH Support