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

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

Leanne Hagen  1   2 , Divya Khattar  1   3 , Katie Whitehead  4 , Hua He  2 , Daniel T Swarr  1   3 , Kristen Suhrie  5   6   7
Affiliations

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

Leanne Hagen et al. J Perinatol. 2022 May.

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.

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