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解读药物基因组学检测结果及其在患者护理中的应用。

Decoding Pharmacogenomic Test Interpretation and Application to Patient Care.

作者信息

Donnelly Roseann S, Cavallari Larisa H, McCune Jeannine S, Trofe-Clark Jennifer, Formea Christine M, Hoffecker Glenda, Csere Molly M, Anderson Keri C, Bhat Shubha, Mosley Scott A, Ma Qing, Ferdock Ariel, Hoffman James M, Hicks J Kevin, Caudle Kelly E

机构信息

American College of Clinical Pharmacy.

出版信息

J Am Coll Clin Pharm. 2024 Jun;7(6):581-588. doi: 10.1002/jac5.1958. Epub 2024 May 8.

DOI:10.1002/jac5.1958
PMID:39582510
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11583779/
Abstract

Pharmacogenomics is a growing area of medicine, and pharmacists across clinical practice settings have the opportunity to individualize medication selection and dosing using genetic data. However, many practicing pharmacists may feel ill-equipped to interpret pharmacogenomic test results because of insufficient education and training. Evidence-based, updated, and freely available resources such as the Clinical Pharmacogenetics Implementation Consortium guidelines can help pharmacists interpret and apply pharmacogenomic test results to patient care. Although gaps for the application of pharmacogenomic information exist, this commentary aims to demystify the interpretation of pharmacogenomic test results and empower pharmacists to apply genetic data alongside other clinical variables to optimize medication-related outcomes for their patients. An "ABCD" framework is proposed to guide pharmacists through the steps: (1) ctionability - Are the gene(s) clinically relevant for the patient? (2) e Mindful of Limitations - What are the caveats with pharmacogenomic test results and reports? (3) linical Practice Guidelines - How do you use pharmacogenomic test results to guide clinical decision-making? and (4) ocument and Discuss - How do you educate the patient about their pharmacogenomic test results and document the results for future use? Key concepts are illustrated using a psychiatric patient case example.

摘要

药物基因组学是医学中一个不断发展的领域,临床实践环境中的药剂师有机会利用基因数据来实现药物选择和给药的个体化。然而,由于教育和培训不足,许多执业药剂师可能觉得自己没有足够的能力来解读药物基因组学检测结果。基于证据、更新且免费可得的资源,如临床药物基因组学实施联盟指南,可以帮助药剂师解读药物基因组学检测结果并将其应用于患者护理。尽管在应用药物基因组学信息方面存在差距,但本评论旨在揭开药物基因组学检测结果解读的神秘面纱,使药剂师有能力将基因数据与其他临床变量一起应用,以优化患者的药物相关治疗效果。本文提出了一个“ABCD”框架,以指导药剂师完成以下步骤:(1)可操作性——这些基因对患者是否具有临床相关性?(2)注意局限性——药物基因组学检测结果和报告有哪些注意事项?(3)临床实践指南——如何利用药物基因组学检测结果来指导临床决策?以及(4)记录与讨论——如何向患者说明其药物基因组学检测结果并记录结果以供将来使用?文中通过一个精神科患者的病例示例说明了关键概念。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ddf/11583779/1ed7a0de2151/nihms-1990152-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ddf/11583779/32269c8df568/nihms-1990152-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ddf/11583779/1ed7a0de2151/nihms-1990152-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ddf/11583779/32269c8df568/nihms-1990152-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ddf/11583779/1ed7a0de2151/nihms-1990152-f0002.jpg

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A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.一个 12 基因药物遗传学检测面板以预防药物不良反应:一项开放标签、多中心、对照、集群随机交叉实施研究。
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