Return of Results from Genetic Research: A Study Of Nephrologists
No Thumbnail Available
Authors
Weiss, Robyn
Issue Date
2022-05-01
Type
thesis_campus
Language
Keywords
nephrology , translational research , APOL1 , chronic kidney disease , CLIA , genetic , Genetics
Genomics
Molecular Genetics
Alternative Title
Human Genetics Theses
Abstract
Research has shown that 10%-37% of patients with chronic kidney disease have an underlying genetic cause. Genetic research in nephrology is important because it often translates into appropriate clinical care for patients, making return of individual research-based genetic test results an ethical responsibility. We surveyed 201 pediatric and adult nephrologists working in the United States to investigate their perspectives regarding the kinds of genetic test results that should be returned from research studies and potential barriers and facilitators to returning these results. Most nephrologists thought all diagnostic results, secondary findings, and risk variants should be returned to both adult and pediatric research participants, while few thought variants of uncertain significance and polygenic risk scores should be returned. A major barrier anticipated by nephrologists concerned the financial obstacles of clinical confirmation of research-based genetic results. Factors that nephrologists felt would facilitate return of results included having educational resources on genetic kidney disease, a list of experts to refer patients to after they receive results, and clear guidelines for clinical care after returning genetic results. The findings of this study can inform best practices for return of results to participants in nephrology research.
Description
Citation
Publisher
License
true