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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Volume 49, Issue 7 (Jul 2011)


Molecular diagnostics for pharmacogenomic testing of fluoropyrimidine based-therapy: costs, methods and applications

Raffaele Di Francia
  • Laboratory of Molecular Haematology, National Cancer Institute, Fondazione “G. Pascale” IRCCS, Naples, Italy
  • Email:
/ Massimiliano Berretta
  • Department of Medical Oncology, CRO National Cancer Institute, IRCCS Aviano (PN), Italy
/ Oriana Catapano
  • Italian Association of Pharmacogenomics and Molecular Diagnostics, Naples, Italy
/ Lorella M.T. Canzoniero
  • Division of Pharmacology, Department of Biological and Environmental Sciences, Sannio University, Benevento, Italy
/ Luigi Formisano
  • Division of Pharmacology, Department of Biological and Environmental Sciences, Sannio University, Benevento, Italy
Published Online: 2011-04-20 | DOI: https://doi.org/10.1515/CCLM.2011.181


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.

Keywords: 5-FU; genotyping cost; molecular diagnostics; polymorphism detection methods

About the article

Corresponding author: R. Di Francia, Laboratory of Molecular Hematology, Istituto Nazionale Tumori, Fondazione “G. Pascale”, IRCCS, via Mariano Semmola, 80131 Naples, Italy Phone: +39 81 5903635, Fax: +39 81 5903 833

Received: 2010-09-17

Accepted: 2011-02-10

Published Online: 2011-04-20

Published in Print: 2011-07-01

Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2011.181.

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©2011 by Walter de Gruyter Berlin Boston. Copyright Clearance Center

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