Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients.

ABSTRACT:

Purpose

To better understand health care utilization and develop decision support tools, methods for identifying patients with suspected genetic diseases (GDs) are needed. Previous studies had identified inpatient-relevant International Classification of Diseases (ICD) codes that were possibly, probably, or definitely indicative of GDs. We assessed whether these codes identified GD-related inpatient, outpatient, and emergency department encounters among pediatric patients with suspected GDs from a previous study (the North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing [NCGENES] study).

Methods

Using the electronic medical records of 140 pediatric patients from the NCGENES study, we characterized the presence of ICD codes representing possible, prob

SUBMITTER: Spees LP 

PROVIDER: S-EPMC8995346 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature