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Abstract
Purpose
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.
Methods
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.
Results
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%).
Conclusions
There is a need to enhance nephrologists’ genetic education to increase genetic testing
utilization in nephrology.
Key words
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Article info
Publication history
Accepted:
February 7,
2023
Received in revised form:
February 6,
2023
Received:
October 21,
2022
Publication stage
In Press Accepted ManuscriptIdentification
Copyright
© 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
