Patel Mayuri S, Cicali Emily J, Orlando Frank A
University of Florida, College of Medicine, Department of Pharmacology and Therapeutics, Gainesville, FL, USA.
University of Florida, College of Pharmacy, Department of Pharmacotherapy and Translational Research, Gainesville, FL, USA.
Pharmacogenomics J. 2025 Jul 8;25(4):18. doi: 10.1038/s41397-025-00376-z.
This review describes healthcare cost effectiveness/savings for pharmacogenetics (PGx) and relevant clinical outcomes in selected common health conditions. PGx allows targeted drug treatment based on genotype and phenotype. Studies highlight how PGx testing reduces the morbidity and mortality of adverse drug reactions (ADRs) by predicting unexpected drug metabolism due to genetic variation in cytochrome P450 enzymes (CYPs) and drug-drug interactions caused by altered CYP enzyme phenotype. Despite many available PGx testing platforms and PGx-guided treatments, clinical implementation remains challenging and slow due to limited (1) insurance coverage and reimbursement of testing and pharmacist interpretation, (2) outcome data such as evidence showing the benefits of preemptive PGx testing for efficacy or ADR prevention, and (3) promotion of PGx testing among healthcare professionals. Of these, cost is the most significant barrier to patients and the healthcare system. This review describes how PGx testing can be cost effective or cost saving for payors and the healthcare system, especially for depression, cardiovascular disease, and ADRs.
本综述描述了药物基因组学（PGx）在特定常见健康状况下的医疗成本效益/节省情况以及相关临床结果。PGx允许基于基因型和表型进行靶向药物治疗。研究强调了PGx检测如何通过预测由于细胞色素P450酶（CYPs）基因变异导致的意外药物代谢以及由CYP酶表型改变引起的药物相互作用，来降低药物不良反应（ADR）的发病率和死亡率。尽管有许多可用的PGx检测平台和PGx指导的治疗方法，但由于以下限制，临床实施仍然具有挑战性且进展缓慢：（1）检测和药剂师解读的保险覆盖范围和报销有限；（2）结果数据，如显示预防性PGx检测对疗效或ADR预防有益的证据；（3）在医疗专业人员中推广PGx检测。其中，成本是患者和医疗系统面临的最重大障碍。本综述描述了PGx检测如何为支付方和医疗系统带来成本效益或节省成本效益，特别是对于抑郁症、心血管疾病和ADR。
