Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

ABSTRACT:

Importance

Genomic testing in infancy guides medical decisions and can improve health outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene-sequencing test provides comparable molecular diagnostic yields and times to return of results.

Objective

To compare outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test.

Design, setting, and participants

The Genomic Medicine for Ill Neonates and Infants (GEMINI) study was a prospective, comparative, multicenter study of 400 hospitalized infants younger than 1 year of age (proband) and their parents, when available, suspected of having a genetic disorder. The study was conducted at 6 US hospitals from June 2019 to November 2021.

Exposure

Enrolled participant

SUBMITTER: Maron JL 

PROVIDER: S-EPMC10336625 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature