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

 Factors to AssessFeatures That Favor Cost-Effectiveness
GenePrevalence
  • Variant allele is relatively common
 Penetrance
  • Gene penetrance is high
TestSensitivity, specificity, cost
  • High specificity and sensitivity
  • A rapid and relatively inexpensive assay is available
DiseasePrevalence
  • 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
TreatmentOutcomes 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

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

From: 3, The Intersection of Genomics and Health Economics

Cover of The Economics of Genomic Medicine
The Economics of Genomic Medicine: Workshop Summary.
Institute of Medicine (US); Roundtable on Translating Genomic-Based Research for Health.
Washington (DC): National Academies Press (US); 2013.
Copyright © 2013, National Academy of Sciences.

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