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Cost Effectiveness of Pharmacogenomics

A Critical and Systematic Review

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  • CEA of Pharmacogenomics: Systematic Review
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Abstract

The use of pharmacogenetic testing in clinical practice is limited thus far. A potential barrier to the widespread implementation of pharmacogenetic testing is the lack of evidence on whether testing provides good value for money. The objective of this review was to provide a systematic and critical review of economic evaluations of pharmacogenetic testing. A literature search using publically available databases was performed for articles published up to October 2009. To be included, studies had to meet the definition of being a pharmacogenomic study (defined as use of information on human genetic variation to target drug therapy) and an economic evaluation (defined as an evaluation of both costs and clinical outcomes). Articles that met these criteria were subsequently reviewed and graded using the Quality of Health Economic Studies (QHES) instrument. Lastly, the evidence for biomarker validity and utility were qualitatively assessed using expert opinion.

A total of 34 articles were identified using our defined criteria. The most common disease category was thromboembolic-related diseases (26%), while the most common biomarkers were thiopurine methyltransferase and cytochrome P450 2C9 (18% each). Almost all studies were published after 2004 (91%). Two types of studies were identified: cost-effectiveness studies and cost-utility studies, with roughly half of the overall studies being cost-utility studies (53%) and a majority of these published within the last 3 years. The average quality score was 77 (range 29–99). Of the biomarkers reviewed, it was estimated that most had demonstrated clinical validity, but only two had demonstrated clinical utility.

Despite a recent increase in the number of economic evaluations of pharmacogenetic applications, further studies examining the clinical validity and utility of these biomarkers are needed to support cost-effectiveness assessments.

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Acknowledgements

This work was partially funded by the Center for Comparative Effectiveness Research in Cancer Genomics (CANCERGEN) through the American Recovery and Reinvestment Act of 2009 by the National Cancer Institute, National Institutes of Health under Agency Award ♯RC2 CA148570. The content of this article is solely the responsibility of the authors and does not necessarily reflect the views or policies of the National Cancer Institute, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government.

All authors meet criteria for authorship and have no conflicts of interest that are directly relevant to the content of this review.

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  1. Department of Pharmacy, Pharmaceutical Outcomes Research and Policy Program (PORPP) and Institute for Public Health Genetics, University of Washington, Box 357630, Health Sciences Bldg, Room H-375P, Seattle, Washington, 98195-7630, USA

    William B. Wong, Josh J. Carlson, Rahber Thariani &  David L. Veenstra (Professor)

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Wong, W.B., Carlson, J.J., Thariani, R. et al. Cost Effectiveness of Pharmacogenomics. Pharmacoeconomics 28, 1001–1013 (2010). https://doi.org/10.2165/11537410-000000000-00000

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