Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation.

ABSTRACT:

Introduction

Rapid genome sequencing (rGS) provides high diagnostic yield for critically ill infants with suspected genetic disorders, but has high upfront costs and insufficient insurance coverage. Assessing the downstream costs and health outcomes associated with rGS is important for guiding coverage decisions. This study compares 1-year healthcare costs and quality-adjusted life years (QALYs) for: 1) early rGS (within 7 days of admission) for all infants, and 2) early targeted neonatal gene sequencing (NewbornDx) for all infants, followed by later rGS (after 7 days) for undiagnosed infants.

Study design

The Genomic Medicine for Ill Neonates and Infants (GEMINI) study was a multicenter, prospective study that enrolled 400 hospitalized infants under one year of age with sus

SUBMITTER: Lavelle TA 

PROVIDER: S-EPMC12036383 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature