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药物基因组学检测:临床证据与实施挑战

Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.

作者信息

Hippman Catriona, Nislow Corey

机构信息

Department of Psychiatry, Faculty of Medicine, University of British Columbia, Vancouver, BC, V6T 2A1, Canada.

BC Mental Health and Addictions Research Institute, 3rd Floor - 938 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.

出版信息

J Pers Med. 2019 Aug 7;9(3):40. doi: 10.3390/jpm9030040.

Abstract

Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events. As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is included in 309 medication labels. Recently, the technology for identifying individual-specific genetic variants (genotyping) has become more accessible. Next generation sequencing (NGS) is a cost-effective option for genotyping patients at many pharmacogenomic loci simultaneously, and guidelines for implementation of these data are available from organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG). NGS and related technologies are increasing knowledge in the research sphere, yet rates of genomic literacy remain low, resulting in a widening gap in knowledge translation to the patient. Multidisciplinary teams-including physicians, nurses, genetic counsellors, and pharmacists-will need to combine their expertise to deliver optimal pharmacogenomically-informed care.

摘要

药物基因组学可通过实现针对基因构成的个性化治疗并降低严重不良事件风险来改善患者护理。截至2019年6月,有针对99种药物的132条药物基因组学给药指南,309种药物标签中包含了药物基因组学信息。最近,识别个体特异性基因变异(基因分型)的技术变得更容易获得。下一代测序(NGS)是一种同时对许多药物基因组学位点进行患者基因分型的经济高效的选择,临床药物基因组学实施联盟(CPIC)和荷兰药物基因组学工作组(DPWG)等组织提供了这些数据的实施指南。NGS及相关技术正在增加研究领域的知识,但基因组素养水平仍然较低,导致知识转化为患者应用方面的差距不断扩大。包括医生、护士、遗传咨询师和药剂师在内的多学科团队需要结合他们的专业知识,以提供最佳的药物基因组学指导护理。

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