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Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.

American journal of human genetics - 1 May 2025

Bastarache Lisa, Tinker Rory J, Schuler Bryce A, Richter Lucas, Phillips John A, Stead William W, Hooker Gillian W, Peterson Josh F, Ruderfer Douglas M

Abstract excerpt

A lack of structural data in electronic health records (EHRs) makes assessing the impact of genetic testing on clinical practice challenging. We extracted clinical genetic tests from the EHRs of more than 1.8 million patients seen at Vanderbilt University Medical Center from 2002 to 2022. With these data, we quantified the use of clinical genetic testing in healthcare and described how testing patterns and...

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PMID: 40245861
DOI: 10.1016/j.ajhg.2025.03.009
PMCID: PMC12120179

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