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Pharmacogenomics. 2004 Dec;5(8):1139-49.

A systematic review of cost-effectiveness analyses of pharmacogenomic interventions.

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  • 1School of Pharmacy, Institute of Health Policy Studies & UCSF Comprehensive Cancer Center, University of California, San Francisco, 3333 California St., UCSF Box 0613, San Francisco, CA 94143, USA.


Cost-effectiveness analysis is a widely used tool to assess the value of healthcare interventions. Our objective was to conduct a systematic review of the literature on the cost effectiveness of pharmacogenomic interventions. We found 11 studies that met our inclusion criteria. The most commonly examined disease was deep vein thrombosis (n=4), followed by cancer (n=3) and viral infections (n=3); the most frequently examined mutation was factor V Leiden (n=5); and the majority of the mutations examined were inherited mutations (n=7), although several studies looked at acquired (tumor or viral) mutations (n=4). The majority of the studies reported a favorable cost-effectiveness ratio for the pharmacogenomic-based strategy (n=7), while two studies reported that the pharmacogenomic-based strategy was not cost effective and two were equivocal. We conclude that there have been few evaluations of the economic costs and benefits of pharmacogenomic interventions and they have covered a limited number of conditions. Further analyses that can be used to guide the use of pharmacogenomics in clinical practice and in developing health policies are urgently needed.

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