Overview of the pharmacoeconomics of pharmacogenetics

Pharmacoeconomics and pharmacogenetics are two fields converging together as it is increasingly recognized that genetic markers predicting efficacy and toxicity to drugs can cost-effectively improve patient care. While pharmacogenetics aims at identifying genetic markers underlying the response to drugs, pharmacoeconomics aims at delivering healthcare cost-effectively. Several studies have investigated the potential cost-effectiveness of pharmacogenetic-based approaches. Recent evidences include screening for thiopurine methyltransferase gene polymorphisms to prevent azathioprine-induced myelosuppression, or screening for human leukocyte antigen (HLA)B5701 to prevent hypersensitivity reactions to abacavir therapy. Furthermore, examples suggesting a cost-effectiveness of markers predicting drug efficacy include screening the angiotensin-converting enzyme gene polymorphisms for statins therapy, the alpha-adducin gene variant for diuretic therapy and the assessment of human epidermal growth factor receptor (HER2) expression for trastuzumab therapy. However, thus far, all these pharmacoeconomic analyses are exploratory and validations in prospective randomized clinical trials are warranted.