P496: Gene list development for the BEACONS Study: The first US multi-state genomic newborn screening initiative

Genetics in Medicine Open 2026 Open access

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Authors: Britt A. Johnson, Ingrid Holm, Harini Somanchi, Roshini Abraham, Ivona A Aksentijevich, Melanie Babinski, Amber Begtrup, Charles John Billington, Carrie L. Blout Zawatsky, Steven E. Brenner, Manish J. Butte, Scott Canna
+45 more Shan Chandrakasan, Samuel Chiang, Stephanie A. Coury, Ottavia M. Delmonte, Lisa Diller, Rebecca Ganetzky, Raphaela T. Goldbach‐Mansky, Raphaela Goldbach-Mansky, Eyal Grunebaum, Rebecca Hale, Ada Hamosh, Alexander M. Holtz, C. Jacobsen, Matthew Kan, Dalia Kasperavičiūtė, Maleewan Kitcharoensakkul, Raymond J. Kreienkamp, Katherine Langley, Joseph A. Majzoub, Rebecca Marsh, Joshua D. Milner, Thomas Minten, Deborah Mitchell, Xiao P. Peng, Emily Place, Craig Platt, Sharon E. Plon, Jennifer M. Puck, Heidi L. Rehm, Amy Roberts, Vijay G. Sankaran, Daniella Schwartz, Christine M. Seroogy, Alanna Strong, Kathleen Sullivan, MD, PhD, Weizhen Tan, Teresa K. Tarrant, Jay R. Thiagarajah, Melissa Walker, Ari Wassner, Rebekah Zimmerman, Hannie Zomer Bolanos, Robert C. Green, Melissa Wasserstein, Nina B. Gold
DOI: 10.1016/j.gimo.2026.103988
Cited by: 0

Abstract

Genome sequencing (GS) has the potential to expand newborn screening (NBS) by enabling the detection of additional early life onset treatable conditions that are not identifiable by standard biochemical methods. Prior GS studies have demonstrated substantial heterogeneity in the gene lists used by genomic NBS research programs. The Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS) study is the first research program to integrate GS results into multiple US state public health laboratories and aims to sequence up to 30,000 newborns.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Prenatal Screening and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103988–103988
Publication date
1 January 2026
Language
EN