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Updated: Apr 1, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Costs and benefits of whole-exome, whole-transcriptome sequencing versus 50-gene panels for genomic profiling in
Jesse D Ortendahl1, Gebra Cuyun Carter2, Eliza M Zantema1
1Stratevi, Boston, MA, USA.
Aims:
The rapid development of therapies linked to molecular biomarkers has increased the importance of next-generation sequencing (NGS)-based tumor profiling to guide treatment decisions. Technology has enabled more comprehensive clinical testing; however, the optimal economic approach deserves investigation. This study evaluated the impact of testing using whole-exome, whole-transcriptome sequencing (WES/WTS) versus 50-gene panel tests from a US payer perspective.
Materials And Methods:
A previously published Microsoft Excel-based model was used to compare WES/WTS and four 50-gene panels for testing within triple-negative breast cancer (TNBC), colorectal cancer (CRC), non-small cell lung cancer (NSCLC), and castrate resistant prostate cancer (CRPC). Genomic alteration prevalence and test sensitivity were based on a previous analysis of WES/WTS results in clinical samples. Model inputs related to the patient population, costs, clinical trial uptake, and market share were based on published literature. Results included the number of patients directed to a different therapy and the per-member per-month (PMPM) impact to a health plan when increasing utilization of WES/WTS testing.
Results:
In a one-million-member hypothetical plan, 858 patients were eligible for tumor profiling. Across the four 50-gene panel tests, the number of patients switching treatment when using WES/WTS testing was 1-2 (TNBC), 4-6 (CRC), 1-6 (NSCLC), and 3-5 (CRPC). PMPM cost differences when replacing use of 50-gene panels with WES/WTS testing ranged from a cost-savings of $0.0517 in NSCLC to a $0.0268 increase in CRPC. Per-patient costs when using WES/WTS testing were driven by medical and pharmacy costs, with testing representing only 1.1-2.1% of total costs.
Limitations:
Limitations include simplifications required in modeling and exclusion of recently approved therapeutic options due to the quickly evolving landscape.
Conclusions:
WES/WTS testing resulted in more patients directed to targeted therapies with a minimal budget impact and should be considered in clinical decision-making to improve patient outcomes.
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