Abstract

BackgroundLimited data exist on the real‐world costs of applying whole‐genome analysis (WGA) in a clinical setting. We estimated the costs of applying WGA to guide treatments for patients with advanced cancers and characterized how costs evolve over time.MethodsThe setting is the British Columbia Cancer Agency Personalized OncoGenomics (POG) program in British Columbia, Canada. Cost data were obtained for patients who enrolled in the program from 2012 to 2015. We estimated mean WGA costs using bootstrapping. We applied time series analysis and produced 10‐year forecasts to determine when costs are expected to reach critical thresholds.ResultsThe mean cost of WGA over the study period was CDN$34,886 per patient (95% CI: $34,051, $35,721). Over time, WGA costs decreased, driven by a reduction in costs of sequencing. Yet, costs of other components of WGA increased. Forecasting showed WGA costs may not reach critical thresholds within the next 10 years.Conclusion WGA costs decreased over the studied time horizon, but expenditures needed to realize WGA remain significant. Future research exploring costs and benefits of WGA‐guided cancer care are crucial to guide health policy.

Highlights

  • IntroductionWhole-genome sequencing (WGS) or targeted gene panels represent a potential future standard of care in oncology (Kilpivaara and Aaltonen 2013; Manolio et al 2013)

  • Whole-genome sequencing (WGS) or targeted gene panels represent a potential future standard of care in oncology (Kilpivaara and Aaltonen 2013; Manolio et al 2013).Targeted gene panels identify mutations in a predetermined selection of genes, whereas WGS reveals the full spectrum of mutations by sequencing the whole genome of tumor and normal cells (Dienstmann et al 2013; Laskin et al 2015)

  • whole-genome analysis (WGA) costs decreased over the studied time horizon, but expenditures needed to realize WGA remain significant

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Summary

Introduction

Whole-genome sequencing (WGS) or targeted gene panels represent a potential future standard of care in oncology (Kilpivaara and Aaltonen 2013; Manolio et al 2013). Targeted gene panels identify mutations in a predetermined selection of genes, whereas WGS reveals the full spectrum of mutations by sequencing the whole genome of tumor and normal cells (Dienstmann et al 2013; Laskin et al 2015). The Cost of Whole-Genome Analysis in Oncology research setting have decreased over time, costs of subsequent bioinformatics analysis necessary to interpret sequence data remain substantial, a phenomenon commonly referred to as “the $1000 genome and the $100,000 analysis” (Mardis 2010; Caulfield et al 2013; Wetterstrand 2016). Limited data exist on the real-world costs of applying whole-genome analysis (WGA) in a clinical setting. We estimated the costs of applying WGA to guide treatments for patients with advanced cancers and characterized how costs evolve over time

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