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Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
Erica Sanford Kobayashi1,2, Bryce Waldman2, Branden M Engorn3
1Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Insights
Rapid whole genome sequencing (rWGS) in pediatric ICUs offers significant value. This study shows rWGS is cost-effective, gaining quality-adjusted life years (QALYs) at a low cost per QALY, suggesting its use as a first-tier test.
Area of Science:
- Genomics
- Pediatric Critical Care Medicine
- Health Economics
Background:
- Rapid whole genome sequencing (rWGS) is increasingly used in pediatric intensive care units (PICUs).
- Previous studies support its diagnostic and clinical utility, but cost-effectiveness data outside neonates is limited.
- Evaluating the economic impact of rWGS in critically ill children is essential.
Purpose of the Study:
- To retrospectively evaluate the cost-effectiveness of rapid whole genome sequencing (rWGS) in a pediatric intensive care unit (PICU).
- To assess the impact of rWGS on healthcare utilization and quality-adjusted life years (QALYs) gained in critically ill children.
- To determine the cost per QALY gained for rWGS in this population.
Main Methods:
- Retrospective analysis of cost data for 38 children in a regional PICU who underwent rWGS.
- Identification of patients with molecular diagnoses and resultant management changes suitable for cost-effectiveness modeling.
- Calculation of PICU care costs, QALYs gained, and the overall cost per QALY.
Main Results:
- Seven out of 17 patients with clear management changes received molecular diagnoses via rWGS.
- These seven patients gained an estimated 12.1 QALYs, with PICU costs reduced by $184,846.
- The total cost for rWGS across 38 patients was $239,400, resulting in a net cost of $54,554 or $4,509 per QALY gained.
Conclusions:
- rWGS in selected PICU children with unexplained diseases is associated with acceptable cost-per-QALY gained.
- The cost per QALY is approximately one-tenth of that typically considered for new medical interventions.
- These findings support the use of rWGS as a first-tier diagnostic test in this patient group.
Abstract:
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU outside of the neonatal age group is lacking. In this study, we examined cost data retrospectively for a cohort of 38 children in a regional pediatric ICU (PICU) who received rWGS. We identified seven of 17 patients who received molecular diagnoses by rWGS and had resultant changes in clinical management with sufficient clarity to permit cost and quality adjusted life years (QALY) modeling. Cost of PICU care was estimated to be reduced by $184,846 and a total of 12.1 QALYs were gained among these seven patients. The total cost of rWGS for patients and families for the entire cohort (38 probands) was $239,400. Thus, the net cost of rWGS was $54,554, representing $4,509 per QALY gained. This quantitative, retrospective examination of healthcare utilization associated with rWGS-informed medicine interventions in the PICU revealed approximately one-third of a QALY gained per patient tested at a cost per QALY that was approximately one-tenth of that typically sought for cost-effective new medical interventions. This evidence suggests that performance of rWGS as a first-tier test in selected PICU children with diseases of unknown etiology is associated with acceptable cost-per-QALY gained.
