Park Sue K, Choi Ji-Yeob
Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
J Prev Med Public Health. 2009 Nov;42(6):371-6. doi: 10.3961/jpmph.2009.42.6.371.
In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.
在本文中,我们回顾了关于有无分子基因组标记的风险评估(RA)模型的文献,以及这些标记在药物遗传学领域的当前应用。流行病学风险评估是利用从当前关于风险和疾病的科学知识建立的统计模型和方程式来进行的。有几篇论文报道,传统的RA工具在个体管理策略的决策中存在重大局限性,因为对疾病和疾病进展的预测不准确。最近,该模型增加了关于遗传易感性因素的信息,这些因素预计是个体风险差异的主要原因。在从诊断到治疗的连续医疗过程中,药物遗传学是基于人类基因组变异(涉及药物分布、代谢和作用靶点)的积累知识而发展起来的,这有可能促进个性化医疗,避免治疗失败和严重副作用。基因组信息在临床环境中的适用性存在许多挑战。本文讨论了遗传标记在药物治疗管理中的当前应用以及药物遗传学中有效生物标志物开发的问题。