Clinical genome sequencing in an unbiased pediatric cohort.

ABSTRACT:

Purpose

We report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases.

Methods

Clinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the electronic medical record. Evidence of report retrieval by clinicians and whether interpretation was concordant with laboratory report was obtained through retrospective chart review.

Results

Twenty definitive diagnoses were made in 19 patients (24%; n = 80). Except for two partial gene deletions, all diagnostic variants would have been detectable by our exome

SUBMITTER: Thiffault I 

PROVIDER: S-EPMC6752301 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature