ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 16 citations in OpenAlex.
- Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility.Life (Basel, Switzerland) · 2026Article
- Understanding perspectives of safety-net NICU neonatologists disclosing genomic sequencing results: a mixed methods approach.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.Children (Basel, Switzerland) · 2025Article
- Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.Prenatal diagnosis · 2025Article
- The Role of Genetic Testing in Palliative Care Decisions for Critically Ill Newborns.Children (Basel, Switzerland) · 2025Review
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.Pediatrics · 2024Article
- "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.medRxiv : the preprint server for health sciences · 2024Article
- NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates.medRxiv : the preprint server for health sciences · 2024Article
- Article
- Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics.Childhood kidney diseases · 2024Review
- Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.Frontiers in pediatrics · 2024Article
- Genomic medicine in neonatal care: progress and challenges.European journal of human genetics : EJHG · 2023Review
Corrections and comments
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Authors and funding
13 authors at 10 institutions in 1 country.
Funding
Abstract
purposeTo describe variation in genomic medicine services across level IV neonatal intensive care units (NICUs) in the United States and Canada.
methodsWe 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.
resultsOverall 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.
conclusionWe 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.