KEY TAKEAWAYS
- The study aimed to compare the costs of WGS versus standard genetic diagnostics in pediatric and adult patients with ALL and AML.
- WGS costs can decrease with economies of scale, aiding its implementation in hematological diagnostics.
Whole-genome sequencing (WGS) is increasingly prevalent in clinical settings. It is anticipated that standard-of-care (SoC) genetic diagnostics for hematological malignancies, including acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), will be superseded.
Tharshini Thangavelu and the team aimed to evaluate and compare the fully burdened cost (‘microcosting’) per patient of WGS versus SoC in Swedish laboratories for pediatric and adult patients with ALL and AML.
Researchers collected cost and resource data from 4 diagnostic labs for SoC genetic tests like chromosome banding, FISH, and targeted sequencing. For WGS costs, a simulation model was created, factoring in different sample sizes to explore potential cost savings as more samples are processed. The aim was to understand how economies of scale could impact overall costs.
The results indicated that for pediatric patients, the average cost for SoC tests was €2,465 for AML and €2,201 for ALL, while for adults, it was €2,458 for AML and €1,207 for ALL. The WGS costs €3,472 per patient with an annual throughput of 2,500 analyses on the Illumina NovaSeq 6000. If the annual volume increased to 7,500 analyses, the WGS cost would decrease by 23%, bringing it down to €2,671.
The study concluded that while WGS is currently more expensive than SoC, costs can be reduced with higher laboratory throughput and anticipated declines in reagent prices. This offers valuable insights for decision-makers in implementing WGS for hematological malignancies.
This study was funded by Illumina, Vinnova, Science for Life Laboratory, and the Swedish Childhood Cancer Fund.
Source: https://pubmed.ncbi.nlm.nih.gov/39101813/
Thangavelu T, Wirta V, Orsmark-Pietras C, et al. (2024). “Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing.” J Med Econ. 2024 Jan-Dec;27(1):1053-1060. doi: 10.1080/13696998.2024.2387515. Epub 2024 Aug 8. PMID: 39101813.
