TABLE 3-2 Factors That Influence the Cost-Effectiveness of Genomic Testing Strategies

Factors to Assess Features That Favor Cost-Effectiveness
Gene Prevalence
  • Variant allele is relatively common
  • Gene penetrance is high
Test Sensitivity, specificity, cost
  • High specificity and sensitivity
  • A rapid and relatively inexpensive assay is available
Disease Prevalence
  • High disease prevalence in the population
Outcomes and economic impacts
  • High untreated mortality
  • Significant impact on quality of life
  • High costs of disease management using conventional methods
Treatment Outcomes and economic impacts
  • Reduction in adverse effects that significantly impact quality of life or survival
  • Significant improvement in quality of life or survival due to differential treatment effects
  • Monitoring of drug response is currently not practiced or difficult
  • No or limited incremental cost of treatment with pharmacogenomic strategy

David Veenstra, IOM workshop presentation, July 17-18, 2012.


Comparative-effectiveness research, which is an amalgamation of previous approaches in technology assessment and health economics, also relates to the issue of how people use information from genomic tests. According to Veenstra, comparative-effectiveness research includes all of the following components:

  • Stakeholder-informed prioritization and design of studies
  • Direct, head-to-head comparisons
  • A broad range of beneficiaries, including patients, clinicians, purchasers, and policy makers

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