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Date of Award

5-2022

Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Claire Davis

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.

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