Caudle Kelly E, Keeling Nicholas J, Klein Teri E, Whirl-Carrillo Michelle, Pratt Victoria M, Hoffman James M
Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Department of Pharmacy Administration, University of Mississippi School of Pharmacy, Oxford, MS 38655, USA.
Pharmacogenomics. 2018 Jul 1;19(10):847-860. doi: 10.2217/pgs-2018-0028. Epub 2018 Jun 19.
Successfully implementing pharmacogenomics into routine clinical practice requires an efficient process to order genetic tests and report the results to clinicians and patients. Lack of standardized approaches and terminology in clinical laboratory processes, ordering of the test and reporting of test results all impede this workflow. Expert groups such as the Association for Molecular Pathology and the Clinical Pharmacogenetics Implementation Consortium have published recommendations for standardizing laboratory genetic testing, reporting and terminology. Other resources such as PharmGKB, ClinVar, ClinGen and PharmVar have established databases of nomenclature for pharmacogenetic alleles and variants. Opportunities remain to develop new standards and further disseminate existing standards which will accelerate the implementation of pharmacogenomics.
要成功将药物基因组学应用于常规临床实践，需要一个有效的流程来安排基因检测，并将结果报告给临床医生和患者。临床实验室流程、检测安排以及检测结果报告中缺乏标准化方法和术语，都阻碍了这一工作流程。分子病理学协会和临床药物基因组学实施联盟等专家小组已发布了关于规范实验室基因检测、报告和术语的建议。其他资源，如药物基因组学知识数据库（PharmGKB）、临床变异数据库（ClinVar）、临床基因组资源（ClinGen）和药物变异数据库（PharmVar），已经建立了药物遗传等位基因和变异的命名数据库。开发新的标准并进一步推广现有标准仍有机会，这将加速药物基因组学的实施。
