Detection and impact of genetic disease in a level IV neonatal intensive care unit

Leanne Hagen; Divya Khattar; Katie Whitehead; Hua He; Daniel T Swarr; Kristen Suhrie

doi:10.1038/s41372-022-01338-0

Detection and impact of genetic disease in a level IV neonatal intensive care unit

J Perinatol. 2022 May;42(5):580-588. doi: 10.1038/s41372-022-01338-0. Epub 2022 Feb 18.

Authors

Leanne Hagen^{1

2}, Divya Khattar^{1

3}, Katie Whitehead⁴, Hua He², Daniel T Swarr^{1

3}, Kristen Suhrie^{5

6

7}

Affiliations

¹ Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
² Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
³ Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
⁴ Auburn University, Auburn, AL, USA.
⁵ Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. ksuhrie@iu.edu.
⁶ Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ksuhrie@iu.edu.
⁷ Division of Neonatal-Perinatal Medicine, Indiana University School of Medicine, Indianapolis, OH, USA. ksuhrie@iu.edu.

PMID: 35181764
DOI: 10.1038/s41372-022-01338-0

Abstract

Objective: To determine detection rates of genetic disease in a level IV neonatal intensive care unit (NICU) and cost of care.

Study design: We divided 2703 neonates, admitted between 2013 and 2016 to a level IV NICU, into two epochs and determined how genetic testing utilization, genetic diagnoses identified, and cost of NICU care changed over time.

Result: The increasing use of multi-gene panels 104 vs 184 (P = 0.02) and whole exome sequencing (WES) 9 vs 28 (P = 0.03) improved detection of genetic disease, 9% vs 12% (P < 0.01). Individuals with genetic diagnoses had higher mean NICU charges, $723,422 vs $417,013 (P < 0.01) secondary to longer lengths of stay, not genetic services.

Conclusion: The increased utilization of broad genetic testing improved the detection of genetic disease but contributed minimally to the cost of care while bolstering understanding of the patient's condition and prognosis.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Exome Sequencing
Genetic Testing*
Hospitalization
Humans
Infant, Newborn
Intensive Care Units, Neonatal*

Grants and funding

K08 HL130666/HL/NHLBI NIH HHS/United States