Molecular diagnostics for pharmacogenomic testing of fluoropyrimidine based-therapy: costs, methods and applications
-
Raffaele Di Francia
,
Massimiliano Berretta
Abstract
Genetic testing of drug response represents an important goal for targeted therapy. In particular, 5-fluorouracil (5-FU) is the backbone of several chemotherapic protocols for treatment of solid tumors. Unfortunately, in some patients, 5-FU is toxic and causes gastrointestinal and hematologic lesions leading to the suspension of therapy. Some adverse drug responses can be predicted by pharmacogenomics. Recently, several polymorphic traits of different genes involved with 5-FU biotransformation have been reported. Many methods have been used for qualitative and quantitative assessment of the mutational status of these genes, without a precise cost-effectiveness analysis. This article reviews recent findings on the seven germline polymorphic traits of four genes involved in the biotransformation of the 5-FU. In particular, we analyze the most common platforms used to identify the specific genetic alterations and their relative costs. Genotyping can be performed either by custom service laboratories or academic reference laboratories by using either the commercial kits (when available) or “in house” tests. By random selection of 20 certified laboratories out of a total of 71, we estimate that the cost of the analysis/single trait is on average €120.00 as custom genotyping service. “In house” validated tests by PCR-based platforms cost approximately €20.00 per single polimorphism. On the basis of this information, the lab manager can evaluate the advantage and limitations, in terms of costs and applicability, of the most appropriate methods for diagnostics of 5-FU pharmacogenomics tests.
©2011 by Walter de Gruyter Berlin Boston
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- Letters to the Editor
- Letter to the Editor Reply: Statistical methods for assessment of added usefulness of new biomarkers
- Reply to Vavrova et al. Clin Chem Lab Med 2011;49:89–92
Articles in the same Issue
- Editorial
- Method comparison: where do we draw the line?
- Review
- Current role of liquid chromatography coupled to mass spectrometry in clinical toxicology screening methods
- Minireview
- Molecular diagnostics for pharmacogenomic testing of fluoropyrimidine based-therapy: costs, methods and applications
- Opinion Paper
- Preanalytical quality improvement: from dream to reality
- Point
- Towards more complete specifications for acceptable analytical performance – a plea for error grid analysis
- Counterpoint
- Closing the brain-to-brain loop in laboratory testing
- General Clinical Chemistry and Laboratory Medicine
- Harmonization of growth hormone measurements with different immunoassays by data adjustment
- Comparison of the results from two different External Quality Assessment Schemes supports the utility of robust quality specifications
- High-throughput LC-MS/MS method for monitoring sirolimus and everolimus in the routine clinical laboratory
- Performance of the Roche Total Mycophenolic Acid® assay on the Cobas Integra 400®, Cobas 6000® and comparison to LC-MS/MS in liver transplant patients
- Diagnostic efficiency of truncated area under the curve from 0 to 2 h (AUC0–2) of mycophenolic acid in kidney transplant recipients receiving mycophenolate mofetil and concomitant tacrolimus
- Good performance of an immunoassay based method for nevirapine measurements in human breast milk
- Measurement of plasma amino acids by Ultraperformance® Liquid Chromatography
- Interchangeability of blood gas, electrolyte and metabolite results measured with point-of-care, blood gas and core laboratory analyzers
- Granularity Index of the SYSMEX XE-5000 hematology analyzer as a replacement for manual microscopy of toxic granulation neutrophils in patients with inflammatory diseases
- Direct chromogenic substrate immuno-capture activity assay for testing of factor VII-activating protease
- The antinuclear antibody assay: developing criteria for reflexive anti-dsDNA antibody testing in a laboratory setting
- A simple liquid chromatography-tandem mass spectrometry method for measuring metanephrine and normetanephrine in urine
- Monoclonal gammopathy missed by capillary zone electrophoresis
- Adaptation of the Diazyme Direct Enzymatic HbA1c Assay for a microplate reader at room temperature
- Validation and Outcome Studies
- Laboratory assessment of iron status in pregnancy
- Cardiovascular Diseases
- Blood cells characteristics as determinants of acute myocardial infarction
- No evidence for an association between the rs2824292 variant at chromosome 21q21 and ventricular fibrillation during acute myocardial infarction in a German population
- Letters to the Editor
- Letter to the Editor Reply: Statistical methods for assessment of added usefulness of new biomarkers
- Reply to Vavrova et al. Clin Chem Lab Med 2011;49:89–92
