Department of Family Medicine, Faculty of Medicine, McGill University, Montreal, QC, Canada.
Expert Rev Mol Diagn. 2012 Nov;12(8):841-55. doi: 10.1586/erm.12.115.
Theranostics represents a broadening in the scope of personalized medicine to include companion diagnostics for health interventions ranging from drugs to vaccines, as well as individual susceptibility to disease. Surprisingly, in the course of this broadening of personalized medicine discourse, relatively little attention has been paid to primary care (as compared with tertiary healthcare settings) despite its vast patient population and being a crucial entry point to health services. Recent advances in pharmacogenomics (PGx), a classical theranostics application whereby genotyping and/or gene expression-based tests are used for targeted or optimal therapy, revealed new opportunities to characterize more precisely human genomic variation and the ways in which it contributes to person-to-person and population variations in drug response. In the immediate foreseeable future, the primary-care physicians are expected to play an ever increasing crucial role in PGx-based prescribing in order to reduce the rates of adverse drug events and improve drug efficacy, yet PGx testing in primary care remains limited. In this article, the authors review the advances in PGx applications, the barriers for their adoption in the clinic from a primary care point of view and the efforts that are being undertaken to move PGx forward in this hitherto neglected application context of theranostic medicine. Finally, the authors propose several salient recommendations, including a 5-year forecast, to accelerate the current convergence between PGx and primary care.
治疗诊断学代表了个性化医学范围的扩大，将伴随诊断纳入健康干预措施，涵盖从药物到疫苗，以及个体对疾病的易感性。令人惊讶的是，在个性化医学话语的这种扩展过程中，尽管初级保健拥有庞大的患者群体，是进入医疗服务的关键切入点，但相对而言，它受到的关注相对较少，与三级保健环境相比。最近，药物基因组学（PGx）取得了进展，这是一种经典的治疗诊断学应用，通过基因分型和/或基于基因表达的测试来进行靶向或最佳治疗，这为更精确地描述人类基因组变异以及它如何导致个体间和人群间药物反应的差异提供了新的机会。在可预见的未来，初级保健医生有望在基于 PGx 的处方中发挥越来越重要的作用，以降低不良药物事件的发生率并提高药物疗效，但在初级保健中进行 PGx 检测仍然有限。在本文中，作者回顾了 PGx 应用的进展，从初级保健的角度来看，它们在临床应用中面临的障碍，以及为推动 PGx 在这一迄今为止被忽视的治疗诊断医学应用背景下取得进展而正在进行的努力。最后，作者提出了一些突出的建议，包括 5 年预测，以加速当前 PGx 和初级保健之间的融合。
