Pharmacogenomics (PGx) to achieve precision medicine is the ultimate frontier of the Human Genome Project, with great expectation toward a new era of personalized pharmacological treatment based on the patients’ genotype. Currently, more than 190 drugs are reported by US FDA to be affected by PGx markers and therefore include label warnings. The clinical validity of specific patient’s pharmacogenetic profiles in predicting clinical outcome has been largely demonstrated and led the pharmacogenetic community to publish guidelines regarding dosing adjustment based on the patient genotype. Oncological treatment is highly affected by adverse drug reaction burden with great impact on patients’ quality of life and health economic resources. Regardless of the growing body of evidence supporting the implementation of pre-emptive genotyping of host genetic polymorphisms to increase chemotherapy safety, their use in the clinical practice is still very limited. Among the factors preventing implementation of pharmacogenetic markers in the clinic is the poor awareness of their clinical utility, with scarce health technology assessment studies published, including cost–effectiveness and cost-consequence evaluations. Prospective randomized clinical trials comparing PGx-guided therapy to normal clinical practice have been conducted to rectify this issue for some gene–drug pairs, however, their use in the field is hampered by high cost. A favorable economic assessment is imperative to recommend application of a PGx test in clinical practice. A recent systematic review of the literature provided strong evidence about the cost–effectiveness of pretreatment pharmacogenetic testing for a set of commonly prescribed drugs, including the anticancer agent irinotecan, associated with the UGT1A1*28 (rs8175347) genotype.
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Roncato R, Cecchin E, Toffoli G. Improving decision making on DPYD and UGT1A1*28 patients’ profiling with an innovative reimbursement strategy. Pharmacogenomics. 2018 Mar;19(4):301-304. doi: 10.2217/pgs-2017-0303.