Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
UMR Inserm U1027 and Université de Toulouse III Paul Sabatier, Toulouse, France.
Clin Pharmacol Ther. 2017 Mar;101(3):341-358. doi: 10.1002/cpt.602.
Despite scientific and clinical advances in the field of pharmacogenomics (PGx), application into routine care remains limited. Opportunely, several implementation studies and programs have been initiated over recent years. This article presents an overview of these studies and identifies current research gaps. Importantly, one such gap is the undetermined collective clinical utility of implementing a panel of PGx-markers into routine care, because the evidence base is currently limited to specific, individual drug-gene pairs. The Ubiquitous Pharmacogenomics (U-PGx) Consortium, which has been funded by the European Commission's Horizon-2020 program, aims to address this unmet need. In a prospective, block-randomized, controlled clinical study (PREemptive Pharmacogenomic testing for prevention of Adverse drug REactions [PREPARE]), pre-emptive genotyping of a panel of clinically relevant PGx-markers, for which guidelines are available, will be implemented across healthcare institutions in seven European countries. The impact on patient outcomes and cost-effectiveness will be investigated. The program is unique in its multicenter, multigene, multidrug, multi-ethnic, and multihealthcare system approach.
尽管在药物基因组学（PGx）领域取得了科学和临床进展，但该技术在常规护理中的应用仍然有限。幸运的是，近年来已经启动了几项实施研究和计划。本文概述了这些研究，并确定了当前的研究差距。重要的是，一个这样的差距是确定将一组 PGx 标志物纳入常规护理的集体临床效用，因为目前的证据基础仅限于特定的、单个的药物-基因对。欧洲委员会的地平线 2020 计划资助的普遍性药物基因组学（U-PGx）联盟旨在解决这一未满足的需求。在一项前瞻性、分块随机、对照临床试验（预防性药物基因组学检测以预防不良药物反应 [PREPARE]）中，将在七个欧洲国家的医疗机构中实施针对一组具有临床相关性的 PGx 标志物的预先基因分型，这些标志物的指南已经可用。将调查其对患者结局和成本效益的影响。该计划在多中心、多基因、多药物、多民族和多医疗体系方法方面具有独特性。
