成熟的药物基因组因素带来改进和成本效益

Cambridge prisms, Precision medicine Pub Date : 2022-10-06 eCollection Date: 2023-01-01 DOI:10.1017/pcm.2022.3
Joseph P Jarvis, Scott E Megill, Peter Silvester, Jeffrey A Shaman
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引用次数: 0

摘要

对人类基因组序列的不断扩展的注释继续预示着精准医学的新时代。知识管理的进步以及利用遗传信息做出临床相关、预测性、诊断性和有针对性的治疗选择的能力,提供了改善患者预后和降低医疗保健总体成本的能力。然而,许多障碍导致遗传学在临床上的大规模应用起步缓慢。成功部署的例子包括通过有针对性的处方进行肿瘤学疾病治疗;然而,即使在这些情况下,在大多数主要的医疗保健系统中,基于基因组的决策也尚未达到护理标准。在过去的二十年里,基因检测、治疗覆盖率和临床决策支持方面的进步导致了药物基因组学的早期采用,即利用基因信息定期确定特定药物对个人的安全性和有效性。在这里,通过它们复杂的历史,我们回顾了药物基因组学测试技术的现状,可以释放临床效用的信息工具,以及代表药物基因组学支持的医疗决策未来的价值驱动实施策略。我们以全面部署的现实世界经济和临床结果作为结论,并最终深入了解全球采用的潜在临界点,包括在全球严重急性呼吸系统综合征冠状病毒2型疫情期间快速扩大大规模检测的最新经验教训。卫生系统、支付者和人口管理者可以利用这项研究作为指导性证据,直接支持立即采取行动遏制医疗成本上涨的趋势。这篇论文由一个关键的中心人物编码,有望成为推动基因科学领域成为国际临床护理标准的重要参考。将遗传学作为护理标准有可能为所有利益相关者提供一个低成本的解决方案,以解决健康状况不佳和医疗成本上升的问题。
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Maturing pharmacogenomic factors deliver improvements and cost efficiencies.

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.

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