Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.

ABSTRACT:

Importance

Clinical genomic tests that examine the DNA sequence of large numbers of genes are commonly used in the diagnosis and management of epilepsy in pediatric patients. The permanence of genomic test result interpretations is not known.

Objective

To investigate the value of reinterpreting previously reported genomic test results.

Design, setting, and participants

This study retrospectively reviewed and reinterpreted genomic test results from July 1, 2012, to August 31, 2015, for pediatric patients who previously underwent genomic epilepsy testing at a single tertiary care pediatric health care facility. Reinterpretation of previously reported variants was conducted in May 2017.

Main outcomes and measures

Patient reports from clinical genomic epilepsy test

SUBMITTER: SoRelle JA 

PROVIDER: S-EPMC6583457 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature