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药物基因组学检测的实施:三级医疗中心的经验及512例患者的试点结果。

Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients.

作者信息

Bakheet Dana, Al Alshaykh Hana, Askar Ghadi, Maddirevula Sateesh, Hagos Samya, Alshahrani Nasir Hamad, Alhusseini Midrar, Moharram Amani, Algadhi Faries, Alswailim Osama, Alsulaim Moatasem, Alamro Bandar, Mohamed Fadl Elmula Fadl Elmula, Khan Bahadur, Almustafa Ahmed, Alshehri Ahmed, Brotons Dimpna, Alajlan Fahad, Alnahedh Mohammed, Alsuwaidan Abdullah, Baz Salah, Alfares Ahmed

机构信息

King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

出版信息

Genet Med Open. 2025 Mar 22;3:103426. doi: 10.1016/j.gimo.2025.103426. eCollection 2025.

Abstract

PURPOSE

Pharmacogenomic (PGx) testing has proven significant clinical utility in minimizing adverse drug reactions and maximizing therapeutic effects. This report is a proof of concept of the clinical implementation of PGx testing at a tertiary care hospital in Riyadh, Saudi Arabia.

METHODS

In collaboration with different departments, we implemented the PGx testing clinical service into our electronic health record cerner for heart and neurology centers patients. We used the PharmacoScan microarray-based test to perform genotyping.

RESULTS

To date, 512 patients have been tested. 97.5% of all patients have at least 1 gene with altered function. Among those patients, = 402 (78.5%) had 3 or more genes with altered function (3 genes = 197, 38.5%, 4 genes = 134, 26.2%, 5 genes = 58, 11.3%, and 6 genes = 13, 2.5%).

CONCLUSION

Our work describes the successful implementation of PGx testing in clinical practice and encourages further research on improving patient outcomes. Moreover, we describe the major challenges at each step of our approach, which provides our institute and others with lessons and insights on implementing PGx testing into clinical practice.

摘要

目的

药物基因组学(PGx)检测已被证明在最大程度减少药物不良反应和最大化治疗效果方面具有显著的临床效用。本报告是沙特阿拉伯利雅得一家三级护理医院实施PGx检测临床应用的概念验证。

方法

我们与不同科室合作,将PGx检测临床服务应用于心脏和神经科中心患者的电子健康记录系统Cerner中。我们使用基于PharmacoScan微阵列的检测方法进行基因分型。

结果

迄今为止,已对512名患者进行了检测。所有患者中97.5%至少有1个功能改变的基因。在这些患者中,402名(78.5%)有3个或更多功能改变的基因(3个基因 = 197名,38.5%;4个基因 = 134名,26.2%;5个基因 = 58名,11.3%;6个基因 = 13名, 2.5%)。

结论

我们的工作描述了PGx检测在临床实践中的成功应用,并鼓励进一步开展改善患者预后的研究。此外,我们描述了我们方法每个步骤中的主要挑战,为我们机构及其他机构在将PGx检测应用于临床实践方面提供了经验教训和见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a707/12166389/b1b2a7ec61cc/gr1.jpg

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