O32: BeginNGS: Updates on advancing newborn screening by genome sequencing trial with federated learning models

Genetics in Medicine Open 2026 Open access

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Authors: Rebecca Reimers, Meredith S. Wright, Brandan Schultz, Lauren Stoddard, Liana Protopsaltis, Ammira Al‐Shabeeb Akil, Terri Helman Finkel, Ajay J. Talati, Chester Brown, Manesha Putra, Austin A Larson, Katarzyna A. Ellsworth
+5 more Hung Van Nguyen, Moran Snir, Laura Hayward, Thomas Defay, Stephen Francis Kingsmore
DOI: 10.1016/j.gimo.2026.104319
Cited by: 0

Abstract

The BeginNGS study is a multiphase trial of a genome sequencing (GS)-based newborn screen (NBS) screening for 507 childhood-onset, medically actionable disorders with prospective and retrospective arms. The retrospective arm utilizes federated learning models to optimize test utility and performance by leveraging genomic data from adult population biobanks and pediatric diagnostic testing. The aggregated deidentified results overcome logistical, regulatory, and privacy concerns associated with querying genomic data across organizations.

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
104319–104319
Publication date
1 January 2026
Language
EN