Provision and Availability of Genomic Medicine Services in Level IV Neonatal Intensive Care Units

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2023 Jul 9

PMID 37422715

Authors

Monica H Wojcik

Katharine P Callahan

Austin Antoniou

Maya C Del Rosario

Luca Brunelli

Nahed O ElHassan

Semsa Gogcu

Karna Murthy

Jennifer A Rumpel

Jennifer A Wambach

Kristen Suhrie

Kristen Fishler

Bimal P Chaudhari

Affiliations

Soon will be listed here.

Abstract

Purpose: To describe variation in genomic medicine services across level IV neonatal intensive care units (NICUs) in the United States and Canada.

Methods: We developed and distributed a novel survey to the 43 level IV NICUs belonging to the Children's Hospitals Neonatal Consortium, requesting a single response per site from a clinician with knowledge of the provision of genomic medicine services.

Results: Overall response rate was 74% (32/43). Although chromosomal microarray and exome or genome sequencing (ES or GS) were universally available, access was restricted for 22% (7/32) and 81% (26/32) of centers, respectively. The most common restriction on ES or GS was requiring approval by a specialist (41%, 13/32). Rapid ES/GS was available in 69% of NICUs (22/32). Availability of same-day genetics consultative services was limited (41%, 13/32 sites), and pre- and post-test counseling practices varied widely.

Conclusion: We observed large inter-center variation in genomic medicine services across level IV NICUs: most notably, access to rapid, comprehensive genetic testing in time frames relevant to critical care decision making was limited at many level IV Children's Hospitals Neonatal Consortium NICUs despite a significant burden of genetic disease. Further efforts are needed to improve access to neonatal genomic medicine services.

Citing Articles

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

Wojcik M, Del Rosario M, Feldman H, Smith H, Holm I Pediatrics. 2024; 154(6).

PMID: 39512073 PMC: 11614160. DOI: 10.1542/peds.2024-068197.

Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.

Yang X, Bai R, Zhang J, Yang Y, Zhang J, Wang B Front Pediatr. 2024; 12:1419495.

PMID: 39205667 PMC: 11349694. DOI: 10.3389/fped.2024.1419495.

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

Wojcik M, Del Rosario M, Feldman H, Smith H, Holm I medRxiv. 2024; .

PMID: 39006444 PMC: 11245053. DOI: 10.1101/2024.06.29.24309646.

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates.

Antoniou A, McGinley R, Metzler M, Chaudhari B medRxiv. 2024; .

PMID: 38978650 PMC: 11230343. DOI: 10.1101/2024.06.24.24309403.

"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs.

DGama A, Wojcik M, Hills S, Douglas J, Yu T, Agrawal P Genet Med. 2024; 26(9):101177.

PMID: 38855852 PMC: 11380591. DOI: 10.1016/j.gim.2024.101177.

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