Progress in pharmacogenetics: consortiums and new strategies.

TitleProgress in pharmacogenetics: consortiums and new strategies.
Publication TypeJournal Article
Year of Publication2016
AuthorsMaroñas O, Latorre A, Dopazo J, Pirmohamed M, Rodríguez-Antona C, Siest G, Carracedo Á, LLerena A
Journal TitleDrug metabolism and personalized therapy
Journal Date2016 Feb 25
Keywordsnext-generation sequencing, NGS, personalized medicine, pharmacogenetics, pharmacogenomics, standardization, translation
AbstractPharmacogenetics (PGx), as a field dedicated to achieving the goal of personalized medicine (PM), is devoted to the study of genes involved in inter-individual response to drugs. Due to its nature, PGx requires access to large samples; therefore, in order to progress, the formation of collaborative consortia seems to be crucial. Some examples of this collective effort are the European Society of Pharmacogenomics and personalized Therapy and the Ibero-American network of Pharmacogenetics. As an emerging field, one of the major challenges that PGx faces is translating their discoveries from research bench to bedside. The development of genomic high-throughput technologies is generating a revolution and offers the possibility of producing vast amounts of genome-wide single nucleotide polymorphisms for each patient. Moreover, there is a need of identifying and replicating associations of new biomarkers, and, in addition, a greater effort must be invested in developing regulatory organizations to accomplish a correct standardization. In this review, we outline the current progress in PGx using examples to highlight both the importance of polymorphisms and the research strategies for their detection. These concepts need to be applied together with a proper dissemination of knowledge to improve clinician and patient understanding, in a multidisciplinary team-based approach.
Alternate JournalDrug Metabol Personal Ther
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