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April 10, 2026JAMA Network Open0 citationsOpen Access

Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing

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KCKatharine Press CallahanKWK. Taylor WildAHAlexandra HeckChildren's Hospital of Philadelphia

Key Points

  • The central aim is to evaluate how parents and intensivists perceive the utility of rapid genomic testing for neonates.
  • Conducted a survey targeting intensivists and parents
  • Evaluated perceptions of genomic testing
  • Focused on critically ill neonates
  • Intensivists showed varied support for genomic testing utility
  • Parents expressed strong interest in testing options
  • Rapid genomic testing perceived as potentially beneficial for critical decisions

Abstract

This survey study assesses intensivists’ and parents’ perceptions of the utility of rapid genomic testing for critically ill neonates.

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Cite This Study

Callahan et al. (2026) studied this question.

synapsesocial.com/papers/69d895d86c1944d70ce06ec7https://doi.org/10.1001/jamanetworkopen.2026.5689
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns2023 · 13 citations
  2. 2Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants2022 · 39 citations
  3. 3A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants2020 · 100 citations
  4. 4An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm2020 · 193 citations
  5. 5Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings2015 · 415 citations