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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

Micro-costing of genetic diagnostics in acute leukemia in Sweden : from standard-of-care to whole-genome sequencing

Author

  • Tharshini Thangavelu
  • Valtteri Wirta
  • Christina Orsmark-Pietras
  • Lucia Cavelier
  • Thoas Fioretos
  • Gisela Barbany
  • Linda Olsson-Arvidsson
  • Tatjana Pandzic
  • Anna Staffas
  • Richard Rosenquist
  • Lars Åke Levin
Show all

Summary, in English

Aims and background: Whole-genome sequencing (WGS) is increasingly applied in clinical practice and expected to replace standard-of-care (SoC) genetic diagnostics in hematological malignancies. This study aims to assess and compare the fully burdened cost (‘micro-costing’) per patient for Swedish laboratories using WGS and SoC, respectively, in pediatric and adult patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Methods: The resource use and cost details associated with SoC, e.g. chromosome banding analysis, fluorescent in situ hybridization, and targeted sequencing analysis, were collected via activity-based costing methods from four diagnostic laboratories. For WGS, corresponding data was collected from two of the centers. A simulation-based scenario model was developed for analyzing the WGS cost based on different annual sample throughput to evaluate economy of scale. Results: The average SoC total cost per patient was €2,465 for pediatric AML and €2,201 for pediatric ALL, while in adults, the corresponding cost was €2,458 for AML and €1,207 for ALL. The average WGS cost (90x tumor/30x normal; sequenced on the Illumina NovaSeq 6000 platform) was estimated to €3,472 based on an annual throughput of 2,500 analyses, however, with an annual volume of 7,500 analyses the average cost would decrease by 23% to €2,671. Conclusion: In summary, WGS is currently more costly than SoC, however the cost can be reduced by utilizing laboratories with higher throughput and by the expected decline in cost of reagents. Our data provides guidance to decision-makers for the resource allocation needed when implementing WGS in diagnostics of hematological malignancies.

Department/s

  • Division of Clinical Genetics
  • Translational Genomic and Functional Studies of Leukemia
  • LUCC: Lund University Cancer Centre
  • LTH Profile Area: Engineering Health
  • Genetic and epigenetic studies of pediatric leukemia

Publishing year

2024

Language

English

Pages

1053-1060

Publication/Series

Journal of Medical Economics

Volume

27

Issue

1

Document type

Journal article

Publisher

Informa Healthcare

Topic

  • Hematology

Keywords

  • acute leukemia
  • economic evaluation
  • micro-costing
  • standard-of-care
  • Whole-genome sequencing

Status

Published

Research group

  • Translational Genomic and Functional Studies of Leukemia
  • Genetic and epigenetic studies of pediatric leukemia

ISBN/ISSN/Other

  • ISSN: 1369-6998