Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia

Vu, M; Degeling, K; Ryland, GL; Hofmann, O; Ng, AP; Westerman, D; Ijzerman, MJ

Author(s): Vu, M; Degeling, K; Ryland, GL; Hofmann, O; Ng, AP; Westerman, D; Ijzerman, MJ;
Details: Publication Year 2024-08,Volume 26,Issue #8,Page 673-684
Journal Title: Journal of Molecular DIagnosis
Abstract: Whole genome and whole transcriptome sequencing (WGTS) can accurately distinguish B-cell acute lymphoblastic leukemia (B-ALL) genomic subtypes. However, whether this is economically viable remains unclear. This study compared the direct costs and molecular subtype classification yield using different testing strategies for WGTS in adolescent and young adult/adult patients with B-ALL. These approaches were: (1) combined BCR::ABL1 by fluorescence in situ hybridization (FISH) + WGTS for all patients; and (2) sequential BCR::ABL1 FISH + WGTS contingent on initial BCR::ABL1 FISH test outcome. The cost of routine diagnostic testing was estimated using Medicare or hospital fees, and the additional cost of WGTS was evaluated from the health care provider perspective using time-driven activity-based costing with resource identification elicited from experts. Molecular subtype classification yield data were derived from literature sources. Parameter uncertainty was assessed through deterministic sensitivity analysis; additional scenario analyses were performed. The total per patient cost of WGTS was $4319 (all costs reported in US dollars); consumables accounted for 74% of the overall cost, primarily driven by sequencing-related consumables. The incremental cost per additional patient categorized into molecular subtype was $8498 for combined BCR::ABL1 FISH + WGTS for all patients and $5656 for initial BCR::ABL1 FISH + WGTS for select patients compared with routine diagnostic testing. A reduction in the consumable costs of WGTS or an increase in the yield of molecular subtype classification is favorable.
Publisher: Elsevier
Keywords: Humans; *Whole Genome Sequencing/economics/methods; Adolescent; Adult; In Situ Hybridization, Fluorescence/economics/methods; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics/diagnosis/economics; Fusion Proteins, bcr-abl/genetics; Transcriptome; Young Adult; Molecular Diagnostic Techniques/economics/methods; Male; Diagnostic Tests, Routine/economics/methods; Female; Cost-Benefit Analysis
Research Division(s): Immunology
PubMed ID: 39059881
Publisher's Version: https://doi.org/10.1016/j.jmoldx.2024.04.006
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-07-31 03:30:23

Last Modified: 2024-07-31 03:40:27