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

doi:10.1016/j.gim.2023.100926

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

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

7 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 language	English (US)
Article number	100926
Journal	Genetics in Medicine
Volume	25
Issue number	10
DOIs	https://doi.org/10.1016/j.gim.2023.100926
State	Published - Oct 2023

Funding

B.P.C. is supported by Nationwide Pediatric Innovation Fund. M.H.W. is supported by NIH / NICHD K23 HD102589 and K.P.C. is supported by NIH / NHGRI T32 HG009496 . The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Keywords

Exome sequencing
Genetic
Genome sequencing
Genomic
Neonatal intensive care unit

ASJC Scopus subject areas

Genetics(clinical)

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10.1016/j.gim.2023.100926

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Wojcik, M. H., Callahan, K. P., Antoniou, A., del Rosario, M. C., Brunelli, L., ElHassan, N. O., Gogcu, S., Murthy, K., Rumpel, J. A., Wambach, J. A., Suhrie, K., Fishler, K., & Chaudhari, B. P. (2023). Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Genetics in Medicine, 25(10), Article 100926. https://doi.org/10.1016/j.gim.2023.100926

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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",

author = "Wojcik, {Monica H.} and Callahan, {Katharine P.} and Austin Antoniou and {del Rosario}, {Maya C.} and Luca Brunelli and ElHassan, {Nahed O.} and Semsa Gogcu and Karna Murthy and Rumpel, {Jennifer A.} and Wambach, {Jennifer A.} and Kristen Suhrie and Kristen Fishler and Chaudhari, {Bimal P.}",

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doi = "10.1016/j.gim.2023.100926",

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AU - Wojcik, Monica H.

AU - Callahan, Katharine P.

AU - Antoniou, Austin

AU - del Rosario, Maya C.

AU - Brunelli, Luca

AU - ElHassan, Nahed O.

AU - Gogcu, Semsa

AU - Murthy, Karna

AU - Rumpel, Jennifer A.

AU - Wambach, Jennifer A.

AU - Suhrie, Kristen

AU - Fishler, Kristen

AU - Chaudhari, Bimal P.

PY - 2023/10

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N2 - 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.

AB - 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.

KW - Exome sequencing

KW - Genetic

KW - Genome sequencing

KW - Genomic

KW - Neonatal intensive care unit

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

Abstract

Funding

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