Rapid Genome Sequencing Compared to a Gene Panel in Infants with a Suspected Genetic Disorder: An Economic Evaluation
Listed in
This article is not in any list yet, why not save it to one of your lists.Abstract
Introduction
Rapid genome sequencing (rGS) provides high diagnostic yield for critically ill infants with suspected genetic disorders, but it has high upfront costs and insufficient insurance coverage. Assessing the long-term costs of rGS is important for guiding coverage decisions. This study compares 1-year healthcare costs 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 rGS after 7 days for undiagnosed infants.
Methods
The Genomic Medicine for Ill Neonates and Infants (GEMINI) study was a multicenter, prospective study that enrolled 400 hospitalized infants under one year with suspected genetic disorders. All participants underwent both rGS and NewbornDx. Using study data, we developed and populated a decision tree to compare 1-year costs for early rGS versus early NewbornDx followed by later rGS if necessary.
Results
The diagnostic yield and upfront testing costs were higher for rGS (49%; $12,297) than NewbornDx (27%; $2,449; p<0.05). Over 1 year, early rGS was estimated to save $158,592 per patient (95% CI: $63,701-$253,292) compared to early NewbornDx with later rGS if necessary.
Discussion
Early rGS results in substantial cost savings, highlighting the need to expand reimbursement to improve access.
