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Cacabelos. J Transl Genet Genom 2021;5:133-5 Journal of Translational
DOI: 10.20517/jtgg.2021.07
Genetics and Genomics

Editorial Open Access

Pharmacogenetics and pharmacogenomics in
human diseases

Ramón Cacabelos

International Center of Neuroscience and Genomic Medicine, EuroEspes Biomedical Research Center, Bergondo 15165, Spain.
Correspondence to: Prof. Dr. Ramón Cacabelos, International Center of Neuroscience and Genomic Medicine, EuroEspes
Biomedical Research Center, Bergondo 15165, Spain. E-mail: rcacabelos@euroespes.com.

How to cite this article: Cacabelos R. Pharmacogenetics and pharmacogenomics in human diseases. J Transl Genet Genom
2021;5:133-5. https://dx.doi.org/10.20517/jtgg.2021.07
Received: 1 Mar 2021 Accepted: 2 Mar 2021 Available online: 7 Apr 2021

Academic Editor: Sanjay Gupta Copy Editor: Yue-Yue Zhang Production Editor: Yue-Yue Zhang

Over the past 20 years the gradual maturation of Genomic Medicine has influenced the medical practice in
three principal areas: (1) pathogenesis and the understanding of the primary cause of diseases; (2) diagnosis,
with the development of biomarkers; and (3) treatment, with the implementation of pharmacogenetic
protocols for personalized therapeutics . Another important issue was the understanding of the genomic
[1]
structure and function of the pharmacogenomic machinery in which pathogenic, mechanistic, metabolic,
transporter and pleiotropic genes are involved, as well as their epigenetic regulation (DNA methylation,
[2]
histone/chromatin modifications, and miRNAs) .

In parallel to the development of specific biomarkers for early and/or presymptomatic diagnosis associated
with the pathogenic mechanisms underlying the onset of a particular disease, the optimization of limited
therapeutic resources by means of personalized treatments is fundamental in the clinical practice.

Cardiovascular disorders (25%-30%), cancer (20%-25%) and brain disorders (10%-15%) represent over 70%
of morbidity and mortality in developed countries. Most of these disorders are chronic and require
treatments for long periods of time, with the consequent risk for adverse drug reactions (ADRs) and drug-
drug interactions (DDIs), since concomitant diseases demand additional treatments . In terms of costs,
[3]
approximately 15%-20% of direct costs are related to pharmacological intervention.

© The Author(s) 2021. 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 as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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