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精准医学——我们做到了吗?对精准医学在初级保健中适用性的叙述性综述。

Precision Medicine-Are We There Yet? A Narrative Review of Precision Medicine's Applicability in Primary Care.

作者信息

Evans William, Meslin Eric M, Kai Joe, Qureshi Nadeem

机构信息

Primary Care Stratified Medicine (PRISM), Division of Primary Care, University of Nottingham, Nottingham NG7 2RD, UK.

PHG Foundation, Cambridge University, Cambridge CB1 8RN, UK.

出版信息

J Pers Med. 2024 Apr 15;14(4):418. doi: 10.3390/jpm14040418.

Abstract

Precision medicine (PM), also termed stratified, individualised, targeted, or personalised medicine, embraces a rapidly expanding area of research, knowledge, and practice. It brings together two emerging health technologies to deliver better individualised care: the many "-omics" arising from increased capacity to understand the human genome and "big data" and data analytics, including artificial intelligence (AI). PM has the potential to transform an individual's health, moving from population-based disease prevention to more personalised management. There is however a tension between the two, with a real risk that this will exacerbate health inequalities and divert funds and attention from basic healthcare requirements leading to worse health outcomes for many. All areas of medicine should consider how this will affect their practice, with PM now strongly encouraged and supported by government initiatives and research funding. In this review, we discuss examples of PM in current practice and its emerging applications in primary care, such as clinical prediction tools that incorporate genomic markers and pharmacogenomic testing. We look towards potential future applications and consider some key questions for PM, including evidence of its real-world impact, its affordability, the risk of exacerbating health inequalities, and the computational and storage challenges of applying PM technologies at scale.

摘要

精准医学(PM),也被称为分层医学、个体化医学、靶向医学或个性化医学,是一个快速发展的研究、知识和实践领域。它融合了两种新兴的健康技术,以提供更好的个性化医疗:随着对人类基因组理解能力的提高而产生的众多“组学”技术,以及“大数据”和数据分析,包括人工智能(AI)。精准医学有潜力改变个人健康状况,从基于人群的疾病预防转向更个性化的管理。然而,这两者之间存在矛盾,存在一种实际风险,即这将加剧健康不平等,并使资金和注意力从基本医疗需求上转移,导致许多人的健康结果更差。医学的各个领域都应考虑这将如何影响其实践,目前政府倡议和研究资金大力鼓励和支持精准医学。在本综述中,我们讨论了精准医学在当前实践中的例子及其在初级保健中的新兴应用,例如纳入基因组标记的临床预测工具和药物基因组学检测。我们展望了其未来的潜在应用,并考虑了精准医学的一些关键问题,包括其在现实世界中的影响证据、可承受性、加剧健康不平等的风险,以及大规模应用精准医学技术的计算和存储挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/913a/11051552/aef220a13ff0/jpm-14-00418-g001.jpg

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