MODELLING THE COST-EFFECTIVENESS PROFILE OF RAPID GENOME SEQUENCING IN CHILDREN SUSPECTED OF RARE GENETIC DISEASES
Author(s)
Jean M. KOUAME, PharmD, PhD1, Simon LaRue, Msc2, Jason R. Guertin, PhD3;
1Université Laval, Postdoctorat, Quebec, QC, Canada, 2CHU de québec, Québec, QC, Canada, 3Université Laval, Québec, QC, Canada
1Université Laval, Postdoctorat, Quebec, QC, Canada, 2CHU de québec, Québec, QC, Canada, 3Université Laval, Québec, QC, Canada
OBJECTIVES: To assess cost-effectiveness profile of rapid genome sequencing (rGS) compared with standard of care strategies in critically ill children with suspected genetic disorders.
METHODS: This economic evaluation is based on a multicenter prospective study that enrolled over a 3-year period, around 582 newborns and children above 1 year old with suspected genetic disorders. All participants underwent rGS or standard of care (SOC) strategies included (Whole exome sequencing, Gene panel testing, chromosomal microarray analysis). Using patient-level study data and costs extracted from an inhospital database, we developed a decision tree model to compare the total cost and diagnostic yield of these two hypothetical testing strategies. This analysis was conducted from a hospital perspective using an initial hospitalization time horizon.
RESULTS: According our result, the diagnostic yield and upfront testing costs were higher for rGS (E1=49%; C1=$13,500) than standard of care strategies (E0=27%; C0=$2,600). Over the initial hospitalization period the ICER was equal to $-73,081 per additional diagnostic. The base case findings showed that rGS would be a dominant strategy compared with SOC. More specifically, our results indicate that, rGS strategy would save $73,081, from the hospital’s perspective, per positive diagnostic.
CONCLUSIONS: Based on our preliminary results, use of the rGS strategy results in substantial healthcare cost savings per additional positive diagnostic. Such results support expanding the reimbursement of rGS strategy for hospitalized critically ill children.
METHODS: This economic evaluation is based on a multicenter prospective study that enrolled over a 3-year period, around 582 newborns and children above 1 year old with suspected genetic disorders. All participants underwent rGS or standard of care (SOC) strategies included (Whole exome sequencing, Gene panel testing, chromosomal microarray analysis). Using patient-level study data and costs extracted from an inhospital database, we developed a decision tree model to compare the total cost and diagnostic yield of these two hypothetical testing strategies. This analysis was conducted from a hospital perspective using an initial hospitalization time horizon.
RESULTS: According our result, the diagnostic yield and upfront testing costs were higher for rGS (E1=49%; C1=$13,500) than standard of care strategies (E0=27%; C0=$2,600). Over the initial hospitalization period the ICER was equal to $-73,081 per additional diagnostic. The base case findings showed that rGS would be a dominant strategy compared with SOC. More specifically, our results indicate that, rGS strategy would save $73,081, from the hospital’s perspective, per positive diagnostic.
CONCLUSIONS: Based on our preliminary results, use of the rGS strategy results in substantial healthcare cost savings per additional positive diagnostic. Such results support expanding the reimbursement of rGS strategy for hospitalized critically ill children.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
EE209
Topic
Economic Evaluation
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Pediatrics, SDC: Rare & Orphan Diseases, STA: Genetic, Regenerative & Curative Therapies