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Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An
Tara A Lavelle1,2, Jill L Maron3, Stephen F Kingsmore4
1Center for the Evaluation of Risk in Health, Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, 800 Washington St., #063, Boston, Massachusetts, 02111, USA.
Insights
Rapid genome sequencing (rGS) for critically ill infants saves significant healthcare costs. Early rGS is more cost-effective than targeted gene sequencing, supporting expanded insurance coverage for faster diagnosis.
Area of Science:
- Genomic Medicine
- Pediatric Health Economics
Background:
- Rapid genome sequencing (rGS) offers high diagnostic yield for infants with suspected genetic disorders but faces cost and coverage barriers.
- Assessing downstream costs and health outcomes of rGS is crucial for informing insurance coverage decisions.
Purpose of the Study:
- To compare the 1-year healthcare costs and quality-adjusted life years (QALYs) of early rGS versus early targeted neonatal gene sequencing (NewbornDx) followed by later rGS if needed.
- To evaluate the economic impact of different genetic testing strategies in hospitalized infants.
Main Methods:
- The Genomic Medicine for Ill Neonates and Infants (GEMINI) study prospectively enrolled 400 infants under one year with suspected genetic disorders.
- A decision tree model using GEMINI data and Medicare rates compared costs and QALYs for early rGS vs. early NewbornDx with subsequent rGS.
Main Results:
- Early rGS had a higher diagnostic yield (49%) and upfront cost ($12,297) than NewbornDx (27%; $2,449).
- Neither strategy significantly impacted QALYs, leading to a cost-minimization analysis.
- Early rGS was estimated to save $158,592 per patient annually compared to the alternative strategy.
Conclusions:
- Early rapid genome sequencing leads to significant healthcare cost savings for critically ill infants.
- Expanded reimbursement for early rGS is recommended to improve access during hospitalization for timely diagnosis.
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 suspected genetic disorders. All participants underwent both rGS and NewbornDx. Using GEMINI data and 2023 Medicare rates, we developed a decision tree to compare total costs and QALYs over a 1-year period for the two testing strategies.
Results:
The diagnostic yield and upfront testing costs were higher for rGS (49%; $12,297) than NewbornDx (27%; $2,449; p<0.05). As neither early testing nor diagnosis significantly affected QALYs, we conducted a cost-minimization analysis, focusing solely on cost differences between strategies. Over one 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.
Conclusions:
Early rGS results in substantial healthcare cost savings, highlighting the need to expand reimbursement to improve access early in a hospitalization for critically ill infants.
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