Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy | Zendy

Jeffrey A. SoRelle | Zendy; Juan M. Pascual | Zendy; Garrett Gotway | Zendy; Jason Y. Park | Zendy

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy

Author(s) -

Jeffrey A. SoRelle,

Juan M. Pascual,

Garrett Gotway,

Jason Y. Park

Publication year - 2020

Publication title -

jama network open

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.278

H-Index - 39

ISSN - 2574-3805

DOI - 10.1001/jamanetworkopen.2020.3812

Subject(s) - epilepsy , variation (astronomy) , interpretation (philosophy) , test (biology) , computational biology , medicine , psychology , natural language processing , biology , computer science , psychiatry , physics , ecology , astrophysics , programming language

Key Points Question What is the variation in interpretations of genetic test results between laboratories for patients with epilepsy? Findings In this cross-sectional study of 22 676 genetic variants associated with epilepsy that were reported to the ClinVar public database, 3.2% of variants interpreted by more than one laboratory had clinically substantial discordance in interpretations. Meaning The results of genomic tests performed in patients with epilepsy may receive interpretations that differ based on the laboratory that performed the testing.

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