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

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

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Article number100926
JournalGenetics in Medicine
Volume25
Issue number10
DOIs
StatePublished - Oct 2023
Externally publishedYes

Keywords

  • Exome sequencing
  • Genetic
  • Genome sequencing
  • Genomic
  • Neonatal intensive care unit

ASJC Scopus subject areas

  • Genetics(clinical)

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