Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation - 09/02/26
, Jill L. Maron, MD 3, Stephen F. Kingsmore, MD 4, Ching-Hsuan Lin, MD 1, Yingying Zhu, PhD 1, Benjamin Sweigart, MA 5, Dallas Reed, MD 6, 7, 8, Bruce D. Gelb, MD 9, Jerry Vockley, MD, PhD 10, Jonathan M. Davis, MD 5, 11Abstract |
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 .
Le texte complet de cet article est disponible en PDF.Keywords : cost-effectiveness, genomics, diagnostic testing, rare and undiagnosed disease
Abbreviations : CGA, GEMINI, HRQOL, IRB, QALYs, rGS, VUS
Plan
| This study was previously presented as an oral presentation at the Pediatric Academic Societies conference in Toronto, Canada, in May 2024. |
Vol 289
Article 114889- février 2026 Retour au numéro
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