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用于个性化医疗应用的即时护理基因检测进展。

Advances in point-of-care genetic testing for personalized medicine applications.

作者信息

de Olazarra A S, Wang S X

机构信息

Department of Electrical Engineering, Stanford University, Stanford, California 94305, USA.

出版信息

Biomicrofluidics. 2023 May 3;17(3):031501. doi: 10.1063/5.0143311. eCollection 2023 May.

Abstract

Breakthroughs within the fields of genomics and bioinformatics have enabled the identification of numerous genetic biomarkers that reflect an individual's disease susceptibility, disease progression, and therapy responsiveness. The personalized medicine paradigm capitalizes on these breakthroughs by utilizing an individual's genetic profile to guide treatment selection, dosing, and preventative care. However, integration of personalized medicine into routine clinical practice has been limited-in part-by a dearth of widely deployable, timely, and cost-effective genetic analysis tools. Fortunately, the last several decades have been characterized by tremendous progress with respect to the development of molecular point-of-care tests (POCTs). Advances in microfluidic technologies, accompanied by improvements and innovations in amplification methods, have opened new doors to health monitoring at the point-of-care. While many of these technologies were developed with rapid infectious disease diagnostics in mind, they are well-suited for deployment as genetic testing platforms for personalized medicine applications. In the coming years, we expect that these innovations in molecular POCT technology will play a critical role in enabling widespread adoption of personalized medicine methods. In this work, we review the current and emerging generations of point-of-care molecular testing platforms and assess their applicability toward accelerating the personalized medicine paradigm.

摘要

基因组学和生物信息学领域的突破使得人们能够识别出众多反映个体疾病易感性、疾病进展和治疗反应性的基因生物标志物。个性化医疗模式利用个体的基因图谱来指导治疗选择、剂量确定和预防保健,从而充分利用了这些突破。然而,个性化医疗在常规临床实践中的整合受到了限制,部分原因是缺乏广泛可部署、及时且具有成本效益的基因分析工具。幸运的是,在过去几十年里,分子即时检测(POCT)技术取得了巨大进展。微流控技术的进步,以及扩增方法的改进和创新,为即时医疗的健康监测打开了新的大门。虽然这些技术中的许多都是为快速传染病诊断而开发的,但它们非常适合作为个性化医疗应用的基因检测平台进行部署。在未来几年,我们预计分子即时检测技术的这些创新将在推动个性化医疗方法的广泛应用方面发挥关键作用。在这项工作中,我们回顾了当前和新一代的即时医疗分子检测平台,并评估它们在加速个性化医疗模式方面的适用性。

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