Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

ABSTRACT:

Importance

The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic groups is not well understood.

Objective

To report interim results of acceptability, feasibility, and outcomes of an ongoing genomic NBS study in a diverse population in New York City within the context of the New York State Department of Health Newborn Screening Program.

Design, setting, and participants

The Genomic Uniform-screening Against Rare Disease in All Newborns (GUARDIAN) study was a multisite, single-group, prospective, observational investigation of supplemental newborn genome screening with a planned enrollment of 100 000 participants. Parent-reported race and ethnicity were recorded at the time of re

SUBMITTER: Ziegler A 

PROVIDER: S-EPMC11503470 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature