Gurwitz D, Zika E, Hopkins M M, Gaisser S, Ibarreta D
European Commission Joint Research Center, Institute for Prospective Technological Studies, Seville, Spain.
Public Health Genomics. 2009;12(3):134-41. doi: 10.1159/000189625. Epub 2009 Feb 10.
This paper reviews the current situation in the field of pharmacogenetics/pharmacogenomics (PGx) in Europe. High expectations surrounding the clinical application of PGx remain largely unmet, as only a limited number of such applications have actually reached the market and clinical practice. Thus, the potential impact of PGx-based diagnostics on healthcare and its socio-economic implications are still unclear. With the aim of shedding some light on these uncertainties, the Institute for Prospective Technological Studies (IPTS) of the European Commission's Joint Research Centre (JRC) has conducted a review of the 'state of the art' and a further analysis on the use of pharmacogenetics diagnostics for preventing toxic drug reactions and improving drug efficacy in Europe. The paper presents highlights from the JRC-IPTS studies and discusses possibilities for improving translation of PGx research in Europe by comparing some experiences in the USA. We also illustrate the related barriers for the clinical uptake of PGx in Europe with specific case-studies. Most of the barriers identified extend beyond the European context. This reflects the global problems of scarcity of data demonstrating proven clinical validity or utility and favorable cost-effectiveness studies to support the clinical application of PGx diagnostic tests in the clinical setting. Another key barrier is the lack of incentives for the private sector to invest in the development and licensing of PGx diagnostic tests for improving the safety and efficacy of out-of-patent drugs. It therefore seems that one key aspect where policy can affect the clinical uptake of PGx is via sustaining large-scale industry-academia collaborations for developing and proving the utility of PGx diagnostics.
本文综述了欧洲药物遗传学/药物基因组学（PGx）领域的现状。围绕PGx临床应用的高期望在很大程度上仍未实现，因为实际上只有有限数量的此类应用进入了市场和临床实践。因此，基于PGx的诊断对医疗保健的潜在影响及其社会经济意义仍不明确。为了阐明这些不确定性，欧盟委员会联合研究中心（JRC）的前瞻性技术研究所（IPTS）对“现有技术水平”进行了综述，并对欧洲使用药物遗传学诊断来预防药物不良反应和提高药物疗效进行了进一步分析。本文介绍了JRC-IPTS研究的重点内容，并通过比较美国的一些经验，讨论了改善欧洲PGx研究转化的可能性。我们还通过具体案例研究说明了欧洲PGx临床应用的相关障碍。所确定的大多数障碍超出了欧洲范围。这反映了全球范围内的问题，即缺乏数据证明临床有效性或实用性以及有利的成本效益研究来支持PGx诊断测试在临床环境中的临床应用。另一个关键障碍是私营部门缺乏投资开发和许可PGx诊断测试以提高非专利药物安全性和有效性的激励措施。因此，政策能够影响PGx临床应用的一个关键方面似乎是通过维持大规模的产学研合作来开发和证明PGx诊断的实用性。
