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

Genet Med. 2022 Apr;24(4):831-838. doi: 10.1016/j.gim.2021.12.001. Epub 2022 Jan 13.


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, probable, or definite GD-related diagnoses across encounter types. In addition, we examined codes from encounters for which initially no GD-related codes had been found and determined whether these codes were indicative of a GD.

Results: Among NCGENES patients with visits between 2014 and 2017, 92% of inpatient, 75% of emergency department, and 63% of outpatient encounters included ≥1 GD-related code. Encounters with highly specific (ie, definite) GD codes had fewer low-specificity GD codes than encounters with only low-specificity GD codes. We identified an additional 32 ICD-9 and 56 ICD-10 codes possibly indicative of a GD.

Conclusion: Code-based strategies can be refined to assess health care utilization among pediatric patients and may contribute to a systematic approach to identify patients with suspected GDs.

Keywords: Burden of care; Electronic medical records; Genetic disease; Health care utilization; Pediatrics.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • Electronic Health Records
  • Emergency Service, Hospital*
  • Genomics
  • Humans
  • International Classification of Diseases*
  • Patient Acceptance of Health Care