Data-driven consideration of genetic disorders for global genomic newborn screening programs.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published Date: May 9, 2025

Abstract

PURPOSE: Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes.

Authors

  • Thomas Minten
    KU Leuven, Leuven, Belgium.
  • Sarah Bick
    Boston Children's Hospital, Boston, MA; Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA.
  • Sophia Adelson
    Brigham and Women's Hospital, Boston, MA; Stanford School of Medicine, Stanford, CA.
  • Nils Gehlenborg
    Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
  • Laura M Amendola
    National Institutes of Health, National Institute of Allergy and Infectious Disease, Rockville, MD.
  • François Boemer
    CHU Liege, University of Liege, Liege, Belgium.
  • Alison J Coffey
    Illumina Inc, San Diego, CA.
  • Nicolas Encina
    ICoNS, Boston, MA; Ariadne Labs, Boston, MA; Harvard T.H. Chan School of Public Health, Boston, MA.
  • Alessandra Ferlini
    Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Janbernd Kirschner
    Department of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany.
  • Bianca E Russell
    Division of Clinical Genetics, Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.
  • Laurent Servais
    University of Oxford, Oxford, UK; University of Liege, Liege, Belgium.
  • Kristen L Sund
    Nurture Genomics, Boston, MA.
  • Ryan J Taft
    Illumina Inc, San Diego, CA.
  • Petros Tsipouras
    FirstSteps-BNSI, Athens, Greece.
  • Hana Zouk
    Laboratory for Molecular Medicine, Department of Pathology, Massachusetts General Hospital, Boston, MA; Department of Pathology, Harvard Medical School, Boston, MA; Broad Institute, Cambridge, MA.
  • David Bick
    Genomics England, London, UK.
  • Robert C Green
    Brigham and Women's Hospital, Boston, MA; Ariadne Labs, Boston, MA; Broad Institute, Cambridge, MA; Mass General Brigham, Boston, MA.
  • Nina B Gold
    Department of Pediatrics, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu.

Keywords

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