title: Deciphering next-generation pharmacogenomics: an information technology perspective.
abstract: In the post-genomic era, the rapid evolution of high-throughput genotyping technologies and the increased pace of production of genetic research data are continually prompting the development of appropriate informatics tools, systems and databases as we attempt to cope with the flood of incoming genetic information. Alongside new technologies that serve to enhance data connectivity, emerging information systems should contribute to the creation of a powerful knowledge environment for genotype-to-phenotype information in the context of translational medicine. In the area of pharmacogenomics and personalized medicine, it has become evident that database applications providing important information on the occurrence and consequences of gene variants involved in pharmacokinetics, pharmacodynamics, drug efficacy and drug toxicity will become an integral tool for researchers and medical practitioners alike. At the same time, two fundamental issues are inextricably linked to current developments, namely data sharing and data protection. Here, we discuss high-throughput and next-generation sequencing technology and its impact on pharmacogenomics research. In addition, we present advances and challenges in the field of pharmacogenomics information systems which have in turn triggered the development of an integrated electronic 'pharmacogenomics assistant'. The system is designed to provide personalized drug recommendations based on linked genotype-to-phenotype pharmacogenomics data, as well as to support biomedical researchers in the identification of pharmacogenomics-related gene variants. The provisioned services are tuned in the framework of a single-access pharmacogenomics portal.
authors.affiliation: Institute of Computer Science, Foundation for Research and Technology Hellas, Crete, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Potamias
authors.affiliation: Institute of Computer Science, Foundation for Research and Technology Hellas, Crete, Greece.
authors.forename: Kleanthi
authors.initials: K
authors.lastname: Lakiotaki
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
authors.forename: Theodora
authors.initials: T
authors.lastname: Katsila
authors.affiliation: Laboratory for International Alliance on Genomic Medicine, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
authors.forename: Ming Ta Michael
authors.initials: MT
authors.lastname: Lee
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.
authors.forename: Stavros
authors.initials: S
authors.lastname: Topouzis
authors.affiliation: Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
authors.forename: David N
authors.initials: DN
authors.lastname: Cooper
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece gpatrinos@upatras.gr.
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D016678:Genome; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D010597:Pharmacogenetics / Q000379:methods*; D057285:Precision Medicine / Q000379:methods
keywords: drug metabolism; gene variants; informatics solutions; microattribution; personalized pharmacogenomics profile; whole-genome sequencing