Dataset Information

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, 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.

SUBMITTER: Spees LP

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

REPOSITORIES: biostudies-literature

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Publications

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

Spees Lisa P LP Hicklin Karen K Adams Michael C MC Farnan Laura L Bensen Jeannette T JT Gilleskie Donna B DB Berg Jonathan S JS Powell Bradford C BC Lich Kristen Hassmiller KH

Genetics in medicine : official journal of the American College of Medical Genetics 20220113 4

<h4>Purpose</h4>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 ...[more]

PMID: 35034852

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Dataset Information

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

Purpose

Methods

Results

Conclusion

Publications

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

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