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

Affiliations

¹ Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Neonatal Genomics Program, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA. Electronic address: monica.wojcik@childrens.harvard.edu.
² Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA.
³ Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
⁴ Neonatal Genomics Program, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
⁵ Division of Neonatology, University of Utah Health and Primary Children's Hospital, Salt Lake City, UT.
⁶ Division of Neonatology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
⁷ Wake Forest School of Medicine, Department of Pediatrics, Winston-Salem, NC.
⁸ Ann & Robert H Lurie Children's Hospital of Chicago and Northwestern University, Chicago, IL; Children's Hospitals Neonatal Consortium, Dover, DE.
⁹ Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO.
¹⁰ Department of Pediatrics, Division of Neonatal-Perinatal Medicine, and Department of Medical and Molecular Genetics, Riley Hospital for Children and Indiana University School of Medicine, Indianapolis, IN.
¹¹ Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.
¹² Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Divisions of Neonatology and Genetics and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH.

PMID: 37422715
PMCID: PMC10592224
DOI: 10.1016/j.gim.2023.100926

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

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

. 2023 Oct;25(10):100926.

doi: 10.1016/j.gim.2023.100926. Epub 2023 Jul 6.

Authors

Affiliations

¹ Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Neonatal Genomics Program, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA. Electronic address: monica.wojcik@childrens.harvard.edu.
² Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA.
³ Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
⁴ Neonatal Genomics Program, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
⁵ Division of Neonatology, University of Utah Health and Primary Children's Hospital, Salt Lake City, UT.
⁶ Division of Neonatology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
⁷ Wake Forest School of Medicine, Department of Pediatrics, Winston-Salem, NC.
⁸ Ann & Robert H Lurie Children's Hospital of Chicago and Northwestern University, Chicago, IL; Children's Hospitals Neonatal Consortium, Dover, DE.
⁹ Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO.
¹⁰ Department of Pediatrics, Division of Neonatal-Perinatal Medicine, and Department of Medical and Molecular Genetics, Riley Hospital for Children and Indiana University School of Medicine, Indianapolis, IN.
¹¹ Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.
¹² Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Divisions of Neonatology and Genetics and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH.

PMID: 37422715
PMCID: PMC10592224
DOI: 10.1016/j.gim.2023.100926

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:. 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

References

1. American Academy of Pediatrics Committee on F, Newborn. Levels of neonatal care. Pediatrics 2012;130(3):587–97. DOI: 10.1542/peds.2012-1999. - DOI - PubMed
1. Hagen L, Khattar D, Whitehead K, He H, Swarr DT, Suhrie K. Detection and impact of genetic disease in a level IV neonatal intensive care unit. J Perinatol 2022;42(5):580–588. DOI: 10.1038/s41372-022-01338-0. - DOI - PubMed
1. Swaggart KA, Swarr DT, Tolusso LK, He H, Dawson DB, Suhrie KR. Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost? J Pediatr 2019;213:211–217 e4. DOI: 10.1016/j.jpeds.2019.05.054. - DOI - PubMed
1. Wojcik MH, Schwartz TS, Thiele KE, et al. Infant mortality: the contribution of genetic disorders. J Perinatol 2019. (In eng). DOI: 10.1038/s41372-019-0451-5. - DOI - PMC - PubMed
1. Group NIS, Krantz ID, Medne L, et al. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr 2021. DOI: 10.1001/jamapediatrics.2021.3496. - DOI - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

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