Skip to main content


Spees, Lisa P.; Hicklin, Karen; Adams, Michael C.; Farnan, Laura; Bensen, Jeannette T.; Gilleskie, Donna B.; Berg, Jonathan S.; Powell, Bradford C.; & Lich, Kristen Hassmiller (2022). Testing and Extending Strategies for Identifying Genetic Disease-Related Encounters in Pediatric Patients. Genetics in Medicine, 24(4), 831-838. PMCID: PMC8995346


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


Reference Type

Journal Article

Year Published


Journal Title

Genetics in Medicine


Spees, Lisa P.
Hicklin, Karen
Adams, Michael C.
Farnan, Laura
Bensen, Jeannette T.
Gilleskie, Donna B.
Berg, Jonathan S.
Powell, Bradford C.
Lich, Kristen Hassmiller

Article Type




Data Set/Study

North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing (NCGENES) Study


United States of America


North Carolina


Gilleskie - 0000-0002-1278-7707