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Olivera et al. Cancer Drug Resist 2019;2:53-68 Cancer
DOI: 10.20517/cdr.2018.25 Drug Resistance

Review Open Access

Pharmacogenetics implementation in the clinics:
information and guidelines for germline variants

Gladys Olivera , Luis Sendra , María José Herrero , Pablo Berlanga , Pablo Gargallo , Yania Yáñez ,
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1,2
3
4
1,2
1,2
Andrea Urtasun , Jaime Font de Mora , Victoria Castel , Adela Cañete , Salvador F. Aliño 1,2
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5
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1 Pharmacogenetics Platform, Instituto de Investigación Sanitaria la Fe, Valencia 46026, Spain.
2 Department of Pharmacology, University of Valencia, Valencia 46010, Spain.
3 Department of Pediatric and Adolescent oncology, Institute Gustave Roussy Center, Villejuif 94800, France.
4 Pediatric Oncology Unit, Hospital Universitario y Politécnico la Fe, Valencia 46026, Spain.
5 Pediatric Clinical and Translational Research in Cancer, Instituto de Investigación Sanitaria la Fe, Valencia 46026, Spain.
Correspondence to: Dr. María José Herrero, Pharmacogenetics Platform, Instituto de Investigación Sanitaria la Fe, Valencia
46026, Spain; Department of Pharmacology, University of Valencia, Valencia 46010, Spain. E-mail: maria.jose.herrero@uv.es
How to cite this article: Olivera G, Sendra L, Herrero MJ, Berlanga P, Gargallo P, Yáñez Y, Urtasun A, Font de Mora J, Castel V,
Cañete A, Aliño SF. Pharmacogenetics implementation in the clinics: information and guidelines for germline variants. Cancer
Drug Resist 2019;2:53-68. http://dx.doi.org/10.20517/cdr.2018.25
Received: 8 Nov 2018 First Decision: 12 Nov 2018 Revised: 18 Jan 2019 Accepted: 31 Jan 2019 Published: 19 Mar 2019
Science Editor: Enrico Mini Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract
The aim of this work was to supply an overview of the germline Pharmacogenetics that can be already implemented in
the oncology clinical practice. An explanation of the three pillars considered necessary for determining which genetic
polymorphisms should be used has been provided. These are PharmGKB single nucleotide polymorphism (SNP)-Drug
Clinical Annotations with levels of evidence 1 or 2; the genetic information provided in the drug labels by the drug
regulatory main agencies (Food and Drug Administration and European Medicines Agency, mainly); and the guidelines
elaborated by international expert consortia (mainly Clinical Pharmacogenetics Implementation Consortium and Dutch
Pharmacogenetics Working Group). A summary of the relevant SNPs and the recommendations on how to apply their
results has also been compiled.

Keywords: Polymorphisms, Pharmacogenetic, PharmGKB, guidelines, oncology, clinical implementation

INTRODUCTION
Pharmacogenetics (PGx) is one of the cornerstones of personalized medicine. It aims to foresee, upon the
patient’s genetic characteristics, what drug and which dose would offer the highest therapeutic benefit and/
or the lowest probability of adverse effects. The most abundant genetic variants influencing PGx are the

© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
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