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Deciphering next-generation pharmacogenomics: an information technology perspective

Potamias, George, Lakiotaki, Kleanthi, Katsila, Theodora, Lee, Ming Ta Michael, Topouzis, Stavros, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Patrinos, George P. 2014. Deciphering next-generation pharmacogenomics: an information technology perspective. Open Biology 4 (7) , 140071. 10.1098/rsob.140071

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > RM Therapeutics. Pharmacology
Publisher: The Royal Society
Date of Acceptance: 19 June 2014
Last Modified: 31 Oct 2022 10:10
URI: https://orca.cardiff.ac.uk/id/eprint/83904

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