P496: Gene list development for the BEACONS Study: The first US multi-state genomic newborn screening initiative
作者
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,Shan Chandrakasan,Samuel Chiang,Stephanie A. Coury,Ottavia M. Delmonte,Lisa Diller,Rebecca Ganetzky,Raphaela T. Goldbach‐Mansky,Raphaela Goldbach-Mansky
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.