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The success of genomic medicine hinges on implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, but referral is likely to be impacted by genetic knowledge.
An online survey was administered to self-identified nephrologists working in the U.S.. Nephrologists’ demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected.
201 nephrologists completed the survey. All reported treating patients with genetic forms of kidney disease, but 37% have referred less than 5 patients to genetic evaluation. A third had limited basic genetic knowledge. Most nephrologists (85%) reported concerns regarding future health insurance eligibility as a barrier to referral to genetic testing. Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to genetic evaluation (p-value<0.001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%).
There is a need to enhance nephrologists’ genetic education to increase genetic testing utilization in nephrology.
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Accepted: February 7, 2023
Received in revised form: February 6, 2023
Received: October 21, 2022
Publication stageIn Press Accepted Manuscript
© 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.