ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021.
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 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- 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
- Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management.Research square · 2026Article
- Identifying characteristics associated with genetic testing in the NICU.Journal of community genetics · 2025Article
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Neurology · 2025Article
- Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.American journal of human genetics · 2024Article
- 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
- Ethical and Legal Issues Surrounding Genetic Testing in the NICU.NeoReviews · 2024Article
- Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Provision and availability of genomic medicine services in Level IV neonatal intensive care units.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThis study aimed to examine variation in genetic testing between neonatal intensive care units (NICUs) across hospitals over time.
methodsWe performed a multicenter large-scale retrospective cohort study using NICU discharge data from the Pediatric Hospital Information System database between 2016 and 2021. We analyzed the variation in the percentage of NICU patients who had any genetic testing across hospitals and over time. We used a multivariable multilevel logistic regression model to investigate the potential association between patient characteristics and genetic testing.
resultsThe final analysis included 207,228 neonates from 38 hospitals. Overall, 13% of patients had at least 1 genetic test sent, although this varied from 4% to 50% across hospitals. Over the study period, the proportion of patients tested increased, with the increase disproportionately borne by hospitals already testing high proportions of patients. On average, patients who received genetic testing had higher illness severity. Controlling for severity, however, only minimally reduced the degree of hospital-level variation in genetic testing.
conclusionThe percentage of NICU patients who undergo genetic testing varies among hospitals and increasingly so over time. Variation is largely unexplained by differences in severity between hospitals. The degree of variation suggests that clearer guidelines for NICU genetic testing are warranted.
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