Advancing Pharmacogenomics from Single-Gene to Preemptive Testing

被引：35

作者：

Haidar, Cyrine E. ^{[1
]}

Crews, Kristine R. ^{[1
]}

Hoffman, James M. ^{[1
,2
]}

Relling, Mary, V ^{[1
]}

Caudle, Kelly E. ^{[1
]}

机构：

[1] St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA

[2] St Jude Childrens Res Hosp, Off Qual & Safety, 332 N Lauderdale St, Memphis, TN 38105 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2022年 / 23卷

基金：

美国国家卫生研究院;

关键词：

pharmacogenetics; pharmacogenomics; precision medicine; individualized medicine; personalized medicine; clinical decision support; genomic medicine; CLINICAL DECISION-SUPPORT; IMPLEMENTATION CONSORTIUM; PRECISION MEDICINE; INCIDENTAL FINDINGS; HEALTH-CARE; UNIVERSITY; POINT; OUTCOMES; INTEGRATION; STRATEGIES;

D O I：

10.1146/annurev-genom-111621-102737

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：449 / 473

页数：25

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