Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.

Journal: The Lancet. Digital health
PMID: 34481768

Abstract

BACKGROUND: Delays in the diagnosis of genetic syndromes are common, particularly in low and middle-income countries with limited access to genetic screening services. We, therefore, aimed to develop and evaluate a machine learning-based screening technology using facial photographs to evaluate a child's risk of presenting with a genetic syndrome for use at the point of care.

Authors

  • Antonio R Porras
    Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D. C.. Electronic address: aporraspe@childrensnational.org.
  • Kenneth Rosenbaum
    Rare Disease Institute, Department of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • Carlos Tor-Díez
    IMT Atlantique, LaTIM U1101 INSERM, UBL, Brest, France. Electronic address: carlos.tordiez@imt-atlantique.fr.
  • Marshall Summar
    Rare Disease Institute, Department of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
  • Marius George Linguraru
    Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC 20010, USA; Departments of Radiology and Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037, USA.

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