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. 2023 Oct;25(10):100926.
doi: 10.1016/j.gim.2023.100926. Epub 2023 Jul 6.

Provision and availability of genomic medicine services in Level IV neonatal intensive care units

Monica H Wojcik  1 , Katharine P Callahan  2 , Austin Antoniou  3 , Maya C Del Rosario  4 , Luca Brunelli  5 , Nahed O ElHassan  6 , Semsa Gogcu  7 , Karna Murthy  8 , Jennifer A Rumpel  6 , Jennifer A Wambach  9 , Kristen Suhrie  10 , Kristen Fishler  11 , Bimal P Chaudhari  12
Affiliations

Provision and availability of genomic medicine services in Level IV neonatal intensive care units

Monica H Wojcik et al. Genet Med. 2023 Oct.

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.

Keywords: Exome sequencing; Genetic; Genome sequencing; Genomic; Neonatal intensive care unit.

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Conflict of interest statement

Conflict of Interest Monica H. Wojcik reports receiving compensation for consulting from Sanofi and Illumina and providing expert witness/consulting services in medical malpractice cases. All other authors declare no conflicts of interest.

Figures

Figure 1:
Figure 1:. Variation in approval for genetic testing across level IV NICUs.
Variation in approval processes (A), types of specialists providing approval for testing (B), and insurance processes (C) is displayed. CMA, chromosomal microarray; ES, exome sequencing; GS, genome sequencing.
See this image and copyright information in PMC

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