Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS
Nina B. Gold, Britt A. Johnson, Harini Somanchi, Thomas Minten, Stephanie A. Coury, Carrie L. Blout Zawatsky, Amber Hogart Begtrup, Elizabeth Butler, Katherine Langley, Rebekah Zimmerman, Heather Marie McLaughlin, Tessa Ellefson, Adriann Kern, Heidi L. Rehm, David Bick, , Robert C. Green
The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.
medRxiv · Mar 25, 2026 · PreprintGenetic & Genomic Medicine