Genome-based Newborn Screening for Severe Childhood Genetic Diseases Has High Positive Predictive Value and Sensitivity in a NICU Pilot Trial

Stephen F. Kingsmore,Meredith Wright, Lauren Olsen, Brandan Schultz, Liana Protopsaltis, Dan Averbuj, Eric Blincow,Jeanne Carroll,Sara Caylor,Thomas Defay,Katarzyna Ellsworth,Annette Feigenbaum, Mia Gover,Lucia Guidugli,Christian Hansen, Lucita Van Der Kraan,Chris M. Kunard, Hugh Kwon, Lakshminarasimha Madhavrao, Jeremy Leipzig, Yupu Liang,Rebecca Mardach, William R. Mowrey, Hung Nguyen, Anna-Kaisa Niemi, Danny Oh, Muhammed Saad,Gunter Scharer,Jennifer Schleit, Shyamal S. Mehtalia,Erica Sanford,Laurie D. Smith, Mary J. Willis,Kristen Wigby, Rebecca Reimers

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Key words

clinical trial,neonatal intensive care unit,genome sequencing,newborn screening,severe childhood genetic disease,positive predictive value,infant,rapid diagnostic genome sequencing,sensitivity,clinical utility

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