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

Abstract

Objective: To compare 1-year health care costs and quality-adjusted life years (QALYs) for 2 diagnostic strategies in critically ill infants with suspected genetic disorders: 1) early rapid genome sequencing (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 study was a multicenter, prospective study that enrolled 400 hospitalized infants under 1 year of age with suspected genetic disorders. All participants underwent both rGS and NewbornDx. Using patient-level Genomic Medicine for Ill Neonates and Infants data and 2023 Medicare rates, we developed a decision tree to compare total costs and QALYs over a 1-year period for these 2 hypothetical testing strategies.

Results: The diagnostic yield and upfront testing costs were higher for rGS (49%; $12,297) than NewbornDx (27%; $2449; P < .05). As neither early testing nor diagnosis significantly affected QALYs, we conducted a cost-minimization analysis, focusing solely on cost differences between strategies. Over 1 year, early rGS was estimated to save $158,592 per patient (95% CI: $63,701-$253,292) compared with early NewbornDx with later rGS if necessary.

Conclusions: Early rGS results in substantial health care cost savings, highlighting the need to expand reimbursement to improve access early in a hospitalization for critically ill infants.

Trial registration: ClinicalTrials.gov Identifier: NCT03890679.

Keywords: cost-effectiveness; diagnostic testing; genomics; rare and undiagnosed disease.