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成熟的药物基因组学因素带来了改善和成本效益。

Maturing pharmacogenomic factors deliver improvements and cost efficiencies.

作者信息

Jarvis Joseph P, Megill Scott E, Silvester Peter, Shaman Jeffrey A

机构信息

Coriell Life Sciences, Philadelphia, PA, USA.

Thermo Fisher Scientific, Waltham, MA, USA.

出版信息

Camb Prism Precis Med. 2022 Oct 6;1:e3. doi: 10.1017/pcm.2022.3. eCollection 2023.

Abstract

An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to improve patient outcomes and reduce the overall cost of healthcare. However, numerous barriers have resulted in a modest start to the clinical use of genetics at scale. Examples of successful deployments include oncologic disease treatment with targeted prescribing; however, even in these cases, genome-informed decision-making has yet to achieve standard of care in most major healthcare systems. In the last two decades, advances in genetic testing, therapeutic coverage, and clinical decision support have resulted in early-stage adoption of pharmacogenomics - the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals. Here, through their complicated histories, we review the current state of pharmacogenomic testing technologies, the information tools that can unlock clinical utility, and value-driving implementation strategies that represent the future of pharmacogenomics-enabled healthcare decision-making. We conclude with real-world economic and clinical outcomes from a full-scale deployment and ultimately provide insight into potential tipping points for global adoption, including recent lessons from the rapid scale-up of high-volume test delivery during the global SARS-CoV2 epidemic.

摘要

对人类基因组序列的注释不断扩展,持续预示着精准医学的新时代。知识管理方面的进展以及利用遗传信息做出临床相关、预测性、诊断性和靶向治疗选择的能力,为改善患者治疗效果和降低医疗保健总成本提供了可能。然而,众多障碍导致遗传学在临床大规模应用方面起步有限。成功应用的例子包括靶向用药治疗肿瘤疾病;然而,即便在这些案例中,基于基因组的决策在大多数主要医疗系统中仍未达到标准治疗水平。在过去二十年里,基因检测、治疗覆盖范围和临床决策支持方面的进展促使了药物基因组学的早期应用——即利用遗传信息常规确定特定药物对个体的安全性和有效性。在此,我们将通过其复杂的发展历程,回顾药物基因组学检测技术的现状、能够释放临床效用的信息工具,以及代表着基于药物基因组学的医疗决策未来的价值驱动实施策略。我们以全面部署的实际经济和临床结果作为总结,并最终深入探讨全球采用的潜在转折点,包括全球新冠疫情期间高容量检测快速扩大规模带来的最新经验教训。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e509/10953741/3c614b1a6cea/S2752614322000035_figAb.jpg

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