2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Characterization of Electronic Health Record Features in Critically Ill Neonates with Genetic Diagnoses

Pdf Summary

This study explores the characterization of electronic health record (EHR) features in critically ill neonates with genetic diagnoses. Genetic disorders are prevalent in neonates admitted to the neonatal intensive care unit (NICU) and contribute to significant morbidity and mortality. However, there is often a delay or lack of diagnosis in these cases. Genetic testing can inform management in a majority of cases, but accurate interpretation of sequencing results and genotype-phenotype associations are crucial.<br /><br />The authors collected data from two databases: the NICU Database, which includes over 22,000 patients and 270 EHR features, and the Clinical Genetics Database, which contains data on clinical genetic testing for patients at their institution. The analysis of the data was conducted using MySQL and R. A phenome-wide association study (PheWAS) was performed to identify EHR features associated with genetic diagnoses in NICU patients.<br /><br />The study found that querying the expansive NICU Database using PheWAS can identify previously unrecognized perinatal phenotypes associated with genetic diagnoses. The analysis of EHR phenotypes for patients with Trisomy 21, chosen as a positive control, demonstrated the potential of this approach. Expanding perinatal phenotype profiles will be crucial to optimize the success of incorporating whole genome sequencing in this population.<br /><br />The study also includes tables illustrating examples of maternal factors and growth measurements captured in the NICU Database. Additionally, references to relevant literature in the field are provided.<br /><br />In summary, this study highlights the importance of comprehensive characterization of EHR features in critically ill neonates with genetic diagnoses. By expanding perinatal phenotype profiles, the diagnostic success of efforts to increase genetic testing and genomic sequencing can be enhanced.

Asset Subtitle

Presenting Author - Bryce Schuler, MD, PhD; Co-Author - Jennifer MS. Sucre, MD; Co-Author - Lisa Bastarache, MA; Co-Author - Douglas Ruderfer, PhD;

Meta Tag

Bioinformatics

Congenital Anomaly

Genetic Testing

Phenotype

Co-Author Jennifer MS. Sucre, MD

Co-Author Lisa Bastarache, MA

Co-Author Douglas Ruderfer, PhD

Presenting Author Bryce Schuler, MD, PhD

Keywords

electronic health record

EHR features

critically ill neonates

genetic diagnoses

neonatal intensive care unit

NICU

morbidity and mortality

genetic testing

sequencing results

genotype-phenotype associations