As international programs explore expanding the use of newborn genomic sequencing, machine learning can help to improve and standardize what genes and conditions should be included.
Authorship: In addition to Gold and Green, Mass Brigham General authors include Sarah Bick, and Sophia Adelson. Additional authors include Thomas Minten, Sophia Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca E. Russell, Laurent Servais, Kristen L. Sund, Ryan J. Taft, Petros Tsipouras, Hana Zouk, ICoNS Gene List Contributors, David Bick and the International Consortium on Newborn Sequencing (ICoNS).
Disclosures: Amendola, Coffey and Taft are employees and shareholders at Illumina Inc. Gehlenborg is co-founder and equity owner of Datavisyn. Gold provides occasional consulting services to RCG Consulting and receives honoraria from Ambry Genetics. Green has received compensation for advising the following companies: Allelica, Atria, Fabric, Genomic Life and Juniper Genomics; and is co-founder of Genome Medical and Nurture Genomics. Russell and Sund are consultants at Nurture Genomics. Servais received personal compensation from Zentech and Illumina Inc. Tsipouras is a co-founder of PlumCare RWE, LLC.
Funding: This work was supported by the following grants: T32GM007748,, R01HG011773, K08HG012811-01, TR003201, HD077671, TR003201, and EU-IMI H2020 GRANT (101034427).
Paper cited: Minten T, et al. “Data-driven consideration of genetic disorders for global genomic newborn screening programs” Genetics in Medicine DOI: 10.1016/j.gim.2025.101443
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