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Measuring the value of pharmacogenomics

Nature Reviews Drug Discovery volume 4, pages 500–509 (2005)Cite this article

Key Points

  • There have been many questions raised about whether pharmacogenomics (PGx) interventions will be of significant value, and how to assess this value.

  • These questions have taken on more importance because new PGx tests for common diseases and frequently used drugs are poised to enter the market, the US Food and Drug Administration has issued new guidance documents related to PGx, and there are increasing concerns about drug safety and costs.

  • Here, we discuss the application of economics-based resource-allocation frameworks to assess the value of PGx, and the findings so far.

  • We develop a resource-allocation framework for assessing the potential value of PGx testing from a population perspective, and apply this framework to the example of tests for variant alleles of the important drug-metabolizing enzyme CYP2D6, as such tests could ultimately be relevant to the majority of the population.

  • Our review provides evidence for the assertion that there is high potential value in expanding the use of PGx but also that there are major challenges to doing so.

  • Two important areas for future research and policy will be obtaining additional data on the association of genetic variation and drug metabolism, response, and clinical outcomes as well as data on adverse drug reactions, and achieving an additional synthesis and dissemination of existing data.

Abstract

Pharmacogenetics and pharmacogenomics offer the potential of developing DNA-based tests to help maximize drug efficacy and enhance drug safety. Major scientific advances in this field have brought us to the point where such tests are poised to enter more widespread clinical use. However, many questions have been raised about whether such tests will be of significant value, and how to assess this. Here, we review the application of economics-based resource-allocation frameworks to assess the value of pharmacogenomics, and the findings so far. We then develop a resource-allocation framework for assessing the potential value of pharmacogenomic testing from a population perspective, and apply this framework to the example of testing for variant alleles of CYP2D6, an important drug-metabolizing enzyme. This review provides a framework for analysing the value of pharmacogenomic interventions, and suggests where further research and development could be most beneficial.

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Acknowledgements

We are grateful for comments from D. Veenstra, University of Washington; B. Shen, Institute for the Future; A. Issa, University of California, Los Angeles; T. E. Klein, Stanford University; and C. R. Burrow, CardioDx. We are also grateful for contributions by S. Adams, University of California, Berkeley. This study was partially funded by an R01 grant to K.A.P.

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Authors and Affiliations

  1. School of Pharmacy and Institute for Health Policy Studies, University of California, San Francisco, Box 0613, 3333 California Street, San Francisco, 94143, California, USA

    Kathryn A. Phillips & Stephanie L. Van Bebber

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Correspondence to Kathryn A. Phillips.

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Related links

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DATABASES

Entrez Gene

CYP2C19

CYP2D6

FURTHER INFORMATION

Cytochrome P450 Drug Interaction Table:

Genelex Corp.:

Pharmacogenetics Knowledge Base:

Roche AmpliChip CYP450:

Verispan:

Glossary

PHARMACOGENOMICS/PHARMACOGENETICS

We use these terms interchangeably to broadly mean the use of genetic information to guide drug prescribing.

ANALYTE-SPECIFIC REAGENT (ASR)

A commercial reagent for tests sold to laboratories conducting in-house tests.

COST-EFFECTIVENESS ANALYSIS

An analysis in which the costs and effectiveness of alternatives are compared using a ratio of incremental costs to incremental effect.

COST-OF-ILLNESS ANALYSIS

An analysis of the total costs incurred by a society due to a specific disease.

COST-MINIMIZATION ANALYSIS

An analysis in which costs are compared among alternatives assumed to have equivalent effectiveness.

COST–CONSEQUENCE ANALYSIS

An analysis in which costs and effectiveness are computed but not aggregated into ratios.

COST–UTILITY ANALYSIS

An analysis in which costs and effectiveness of alternatives are compared using the ratio of incremental costs to incremental quality-adjusted life years.

COST–BENEFIT ANALYSIS

An analysis in which costs and benefits are expressed in monetary terms and a net gain/loss or cost/benefit ratio is computed.

VALID BIOMARKER

A biomarker that is measured in an analytical test system with well-established performance characteristics.

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Phillips, K., Van Bebber, S. Measuring the value of pharmacogenomics. Nat Rev Drug Discov 4, 500–509 (2005). https://doi.org/10.1038/nrd1749

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