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Published on: April 4, 2018
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An
Tara A Lavelle1, Jill L Maron2, Stephen F Kingsmore3
1Center for the Evaluation of Risk in Health, Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA; Department of Medicine, Tufts University School of Medicine, Boston, MA.
Insights
Early rapid genome sequencing (rGS) for critically ill infants with genetic disorders is more cost-effective than targeted neonatal gene sequencing. This approach saves significant healthcare costs within the first year.
Area of Science:
- Genomic Medicine
- Neonatal Care
- Health Economics
Background:
- Suspected genetic disorders in critically ill infants require timely diagnosis.
- Current diagnostic strategies involve targeted gene sequencing or broader genome sequencing.
Purpose of the Study:
- To compare the 1-year healthcare costs and quality-adjusted life years (QALYs) of two diagnostic strategies for infants with suspected genetic disorders.
- Strategy 1: Early rapid genome sequencing (rGS) within 7 days.
- Strategy 2: Early targeted neonatal gene sequencing (NewbornDx), followed by rGS if needed.
Main Methods:
- Prospective, multicenter study of 400 hospitalized infants (<1 year) with suspected genetic disorders.
- All infants underwent both rGS and NewbornDx.
- Decision tree analysis using patient data and Medicare rates to compare costs and QALYs over 1 year.
Main Results:
- rGS had a higher diagnostic yield (49%) and upfront cost ($12,297) compared to NewbornDx (27%, $2449).
- Neither strategy significantly impacted QALYs, leading to a cost-minimization analysis.
- Early rGS was estimated to save $158,592 per patient annually compared to early NewbornDx.
Conclusions:
- Early rGS demonstrates substantial healthcare cost savings for critically ill infants with suspected genetic disorders.
- Expanded reimbursement for early rGS is needed to improve access during hospitalization.
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.
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