希腊精准治疗临床实施的药物基因组学景观系统分析。

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY
George P Patrinos, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Maria Skokou, Zoe Kordou, Eirini Sparaki, Margarita Skaraki, Christina Mitropoulou
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引用次数: 0

摘要

药物基因组学(PGx)旨在描述药物疗效和/或毒性差异的患者遗传谱,特别是关注编码药物代谢酶和转运蛋白的基因。PGx的临床实施是一项复杂的工作,涉及多学科方法,其中包括彻底了解一个国家采用这一现代学科的准备情况,以及在人口水平上对PGx生物标志物等位基因谱的详细了解。在一些欧洲人群中,特别是在收入较低的国家,PGx的临床实施仍处于起步阶段。我们之前进行了一项试点研究,以确定18个欧洲人群中PGx生物标志物的患病率,作为在欧洲水平上实现人口PGx的第一步。在这里,我们对希腊的PGx现状进行了全面的分析,包括临床可操作的PGx生物标志物的详细等位基因频谱,学术界的PGx教育水平,公共和私人实验室提供的PGx检测服务,以及PGx监管环境的各个方面。特别是在希腊国家药品组织和欧洲药品管理局与卫生技术评估之间的差异方面。这项研究不仅将为加快希腊临床应用PGx提供基础,而且还可以作为在其他欧洲国家复制未来研究的范例,以扩展先前可用的试点研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece.

Pharmacogenomics (PGx) aims to delineate a patient's genetic profile with differences in drug efficacy and/or toxicity, particularly focusing on genes encoding for drug-metabolizing enzymes and transporters. Clinical implementation of PGx is a complex undertaking involving a multidisciplinary approach that includes, among others, a thorough understanding of a country's preparedness to adopt this modern discipline and a detailed knowledge of PGx biomarkers allelic spectrum at a population level. In several European populations, particularly in countries with lower income, clinical implementation of PGx is still in its infancy. We have previously performed a pilot study to determine the prevalence of PGx biomarkers in 18 European populations, as the first step towards population PGx at the European level. Here, we provide a comprehensive analysis of the current state of PGx in Greece, including a detailed allelic frequency spectrum of clinically actionable PGx biomarkers, the level of PGx education in academia, the provision of PGx testing services from public and private laboratories, and the aspects of the regulatory PGx environment, especially with respect to the discrepancies between the Greek National Organization of Medicines and the European Medicine Agency and health technology assessment. This study would not only provide the foundations for expediting the adoption of PGx in clinical reality in Greece but can also serve as a paradigm for replicating future studies in other European countries, to expand on previously available pilot studies.

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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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