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推进单基因检测向药物基因组学预测性检测的发展。

Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.

机构信息

Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA; email:

Office of Quality and Safety, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

出版信息

Annu Rev Genomics Hum Genet. 2022 Aug 31;23:449-473. doi: 10.1146/annurev-genom-111621-102737. Epub 2022 May 10.

DOI:10.1146/annurev-genom-111621-102737
PMID:35537468
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9483991/
Abstract

Pharmacogenomic testing can be an effective tool to enhance medication safety and efficacy. Pharmacogenomically actionable medications are widely used, and approximately 90-95% of individuals have an actionable genotype for at least one pharmacogene. For pharmacogenomic testing to have the greatest impact on medication safety and clinical care, genetic information should be made available at the time of prescribing (preemptive testing). However, the use of preemptive pharmacogenomic testing is associated with some logistical concerns, such as consistent reimbursement, processes for reporting preemptive results over an individual's lifetime, and result portability. Lessons can be learned from institutions that have implemented preemptive pharmacogenomic testing. In this review, we discuss the rationale and best practices for implementing pharmacogenomics preemptively.

摘要

药物基因组学检测可以成为增强药物安全性和疗效的有效工具。具有药物基因组学作用的药物被广泛应用,大约 90-95%的个体至少有一种药物基因的作用基因型。为了使药物基因组学检测对药物安全性和临床护理产生最大影响,应在开处方时提供遗传信息(预先检测)。然而,预先药物基因组学检测的使用存在一些后勤方面的担忧,例如一致的报销、报告个体一生中预先检测结果的流程以及结果的可移植性。可以从已经实施预先药物基因组学检测的机构中吸取经验教训。在这篇综述中,我们讨论了预先实施药物基因组学检测的基本原理和最佳实践。

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