高证据,可操作的表型基因分布在多专科,三级保健诊所:潜在可操作的基因和参考部门档案。

Innovations in Pharmacy Pub Date : 2023-10-10 eCollection Date: 2023-01-01 DOI:10.24926/iip.v14i2.5476
Blake Bartlett, Sheena Crosby, Michael J Schuh
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引用次数: 0

摘要

近年来,个体化医疗已成为一种趋势。药物基因组学(PGx)是利用患者特异性遗传变异来指导药物选择和治疗。目的:主要目的是表征转诊科室患者群体,并确定该转诊人群中高证据、可操作的表型(HEAP)基因的数量,以帮助指导最适用的患者群体和部门的营销工作。实习描述:位于目的地三级保健诊所。提供者将患者推荐给药物基因组学(PGx)专家,使用他们的药物基因组学结果进行全面的药物审查。实践创新:该实践具有创新性,因为它自2016年以来一直在药房和医疗实践中使用PGx,并且自2020年以来一直定期开发并将PGx最佳实践警报(bpa)纳入电子病历(EMR)。评价方法采用27个基因的PGx面板试验,对药代动力学基因和药效学基因进行遗传分析。高证据可操作表型(HEAP)被定义为具有指南支持的表型,可能建议医疗保健提供者采取行动。低证据不可操作表型(LENP)被定义为不建议采取行动的表型。结果154例患者共发现1236个不典型表型。非典型基因中HEAP占39.97%,LENP占60.03%。在确定的HEAP中,大多数来自CYP2D6、VKORC1和UGT1A1。98.7%的患者(n=152)至少发现1个HEAP。结论存在多种高证据可操作表型(High Evidence Actionable Phenotypes, HEAP),每位患者至少存在一个HEAP基因的可能性很高。当与受这些HEAP基因影响的药物联合使用时,这些表型可能导致严重的安全性问题。因此,转介到药物基因组学咨询服务可能导致发病率和死亡率的总体下降,并潜在地避免成本。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-Evidence, Actionable Phenotype Gene Distribution in a Multispecialty, Tertiary Care Clinic: Potentially Actionable Genes and a Referring Department Profile.

Background There has been a trend in recent years toward individualized medicine. Pharmacogenomics (PGx) is the use of patient-specific genetic variations to guide medication selection and treatment. Objective: The primary objective was to characterize the population of referring department patients and identify the number of high-evidence, actionable phenotype (HEAP) genes in this referred population to help guide marketing efforts to the most applicable patient populations and departments. Practice description: Located in a destination, tertiary care clinic. Providers refer patients to a Pharmacogenomics (PGx) specialist for a comprehensive medication review using their pharmacogenomic results. Practice Innovation: The practice is innovative because it has been using PGx in the pharmacy and medical practices since 2016 and has been routinely developing and incorporating PGx best practice alerts (BPAs) into the electronic medical record (EMR) since 2020. Evaluation Methods Genetic results were analyzed from a 27-gene PGx panel test which tests for both pharmacokinetic and pharmacodynamic genes. High-Evidence Actionable Phenotypes (HEAP) are defined as phenotypes with guideline support that may suggest an action by healthcare provider. Low-Evidence Nonactionable Phenotypes (LENP) are defined as phenotypes that do not recommend action. Results There were 1,236 atypical phenotypes identified in the 154 patients referred. Of the atypical genes, 39.97% were HEAP and 60.03% were LENP. Of the HEAP's identified, the majority came from CYP2D6, VKORC1, and UGT1A1. At least 1 HEAP was found in 98.7% of patients (n=152). Conclusion There are a variety of High Evidence Actionable Phenotypes (HEAPs) with a high likelihood of at least one HEAP gene in every patient. These phenotypes can result in serious safety concerns when combined with a medication impacted by one of these HEAP genes. Thus, referral to a pharmacogenomics consultation service may lead to an overall decrease in morbidity and mortality with potential cost avoidance.

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