ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Perspectives of United States neonatologists on genetic testing practices.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. 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, 20 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
- 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
- Identifying characteristics associated with genetic testing in the NICU.Journal of community genetics · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- 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
- Ethical and Legal Issues Surrounding Genetic Testing in the NICU.NeoReviews · 2024Article
- Article
- Genomic medicine in neonatal care: progress and challenges.European journal of human genetics : EJHG · 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
3 authors at 1 institution in 1 country.
Funding
Abstract
purposeGenetic disorders often present in the neonatal intensive care unit (NICU), and detecting or confirming these diagnoses has been shown to impact care. However, the availability and use of genetic testing, particularly exome or genome sequencing, among NICUs varies widely. We therefore sought to investigate practice patterns related to genetic testing in NICUs around the country to identify and quantify potential discrepancies.
methodsWe designed a survey that was distributed to neonatologists via email. The survey contained questions related to test availability and desirability, the process of test ordering in NICU, and general comfort with ordering and interpreting genetic testing. Demographic data related to the survey participants and characteristics of their NICU were also obtained.
resultsIn total, 162 neonatologists completed the survey, representing 40 states and 112 distinct NICUs. Although nearly all (93.2%) neonatologists attributed a high level of importance to identifying a genetic diagnosis for their patients, genetic consultations were only available at 78% of NICUs and exome or genome sequencing was not available on a regular basis (69% of NICUs).
conclusionAlthough, among US neonatologists surveyed, most feel that genetic tests are indicated for their patients, these are not always clinically available. Further research into implementation barriers is warranted.
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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.