Perspective ARTICLE

Front. Genet., 26 November 2012 |

Toward a clinical practice guide in pharmacogenomics testing for functional polymorphisms of drug-metabolizing enzymes. Gene/drug pairs and barriers perceived in Spain

José A. G. Agúndez1,2*, Francisco Abad-Santos3, Ana Aldea4, Hortensia Alonso-Navarro5,6, María L. Bernal7, Alberto M. Borobia8, Emma Borrás2,9, Miguel Carballo2,9, Alfonso Carvajal10, José D. García-Muñiz11, Guillermo Gervasini1, Félix J. Jiménez-Jiménez5,6, María I. Lucena12,13, Carmen Martínez2,14, José A. Sacristán15, Inés Salado16, Blanca Sinués7, Jorge Vicente7 and Elena García-Martín2,17
  • 1Department of Pharmacology, University of Extremadura, Cáceres, Spain
  • 2Instituto de Salud Carlos III Spanish Research Network of Adverse Reactions to Allergens and Drugs, Madrid, Spain
  • 3Servicio de Farmacologia Clínica, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria Princesa, Madrid, Spain
  • 4Unidad de Ensayos Clínicos, Hospital Universitario de Canarias, La Laguna, Spain
  • 5Department of Medicine-Neurology, Hospital Príncipe de Asturias, Alcalá de Henares, Spain
  • 6Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Spain
  • 7Department of Pharmacology, University of Zaragoza, Zaragoza, Spain
  • 8Unidad de Farmacogenética Clínica, Servicio de Farmacología Clínica, Hospital Universitario La Paz de Madrid, Instituto de Investigación Hospital Universitario La Paz, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain
  • 9Unitat de Genètica Molecular, Hospital de Terrassa, Terrassa, Spain
  • 10Department of Pharmacology, University of Valladolid, Valladolid, Spain
  • 11Hospital Universitario de Ceuta, Ceuta, Spain
  • 12Servicio de Farmacología Clínica, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga, Universidad de Málaga, Málaga, Spain
  • 13Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, Barcelona, Spain
  • 14Department of Pharmacology, University of Extremadura, Badajoz, Spain
  • 15Departamento Médico, Lilly S.A., Alcobendas, Madrid, Spain
  • 16Centro de Estudios sobre la Seguridad de los Medicamentos, Universidad de Valladolid, Valladolid, Spain
  • 17Department of Biochemistry and Molecular Biology, University of Extremadura, Cáceres, Spain

The development of clinical practice recommendations or guidelines for the clinical use of biomarkers is an issue of great importance with regard to adverse drug reactions. The potential of pharmacogenomic biomarkers has been extensively investigated in recent years. However, several barriers to implementing the use of pharmacogenomics testing exist. We conducted a survey among members of the Spanish Societies of Pharmacology and Clinical Pharmacology to obtain information about the perception of such barriers and to compare the perceptions of participants about the relative importance of major gene/drug pairs. Of 11 potential barriers, the highest importance was attributed to lack of institutional support for pharmacogenomics testing, and to the issues related to the lack of guidelines. Of the proposed gene/drug pairs the highest importance was assigned to HLA-B/abacavir, UGT1A1/irinotecan, and CYP2D6/tamoxifen. In this perspective article, we compare the relative importance of 29 gene/drug pairs in the Spanish study with that of the same pairs in the American Society for Clinical Pharmacology and Therapeutics study, and we provide suggestions and areas of focus to develop a guide for clinical practice in pharmacogenomics testing.

Keywords: biomarkers, adverse drug reactions, pharmacogenomics, clinical recommendations, clinical relevance

Citation: Agúndez JAG, Abad-Santos F, Aldea A, Alonso-Navarro H, Bernal ML, Borobia AM, Borrás E, Carballo M, Carvajal A, García-Muñiz JD, Gervasini G, Jiménez-Jiménez FJ, Lucena MI, Martínez C, Sacristán JA, Salado I, Sinués B, Vicente J and García-Martín E (2012) Toward a clinical practice guide in pharmacogenomics testing for functional polymorphisms of drug-metabolizing enzymes. Gene/drug pairs and barriers perceived in Spain. Front. Gene. 3:273. doi: 10.3389/fgene.2012.00273

Received: 20 September 2012; Accepted: 12 November 2012;
Published online: 26 November 2012.

Edited by:

Kathrin Klein, Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Germany

Reviewed by:

Reinhold Kerb, Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Germany
Luis Abel Quiñones, University of Chile, Chile

Copyright: © 2012 Agúndez, Abad-Santos, Aldea, Alonso-Navarro, Bernal, Borobia, Borrás, Carballo, Carvajal, García-Muñiz, Gervasini, Jiménez-Jiménez, Lucena, Martínez, Sacristán, Salado, Sinués, Vicente and García-Martín. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc.

*Correspondence: José A. G. Agúndez, Department of Pharmacology, University of Extremadura, Avenida de la Universidad s/n, E-10071 Cáceres, Spain. e-mail: