Department of Medical Statistics & Bioinformatics, Leiden University Medical Center/Informatics Institute, University of Amsterdam, Einthovenweg 20, 2333 ZC Leiden, The Netherlands.
Pharmacogenomics. 2012 Jan;13(2):201-12. doi: 10.2217/pgs.11.179.
Understanding how each individual's genetics and physiology influences pharmaceutical response is crucial to the realization of personalized medicine and the discovery and validation of pharmacogenomic biomarkers is key to its success. However, integration of genotype and phenotype knowledge in medical information systems remains a critical challenge. The inability to easily and accurately integrate the results of biomolecular studies with patients' medical records and clinical reports prevents us from realizing the full potential of pharmacogenomic knowledge for both drug development and clinical practice. Herein, we describe approaches using Semantic Web technologies, in which pharmacogenomic knowledge relevant to drug development and medical decision support is represented in such a way that it can be efficiently accessed both by software and human experts. We suggest that this approach increases the utility of data, and that such computational technologies will become an essential part of personalized medicine, alongside diagnostics and pharmaceutical products.
了解个体的遗传和生理如何影响药物反应对于实现个性化医疗至关重要,而发现和验证药物基因组生物标志物是其成功的关键。然而,在医疗信息系统中整合基因型和表型知识仍然是一个关键挑战。我们无法轻松、准确地将生物分子研究的结果与患者的病历和临床报告整合起来,这使得我们无法充分发挥药物基因组学知识在药物开发和临床实践中的潜力。在此,我们描述了使用语义 Web 技术的方法,其中与药物开发和医学决策支持相关的药物基因组学知识以一种可以被软件和人类专家高效访问的方式表示。我们认为这种方法提高了数据的实用性,并且这种计算技术将成为个性化医疗的重要组成部分,与诊断和药物产品并列。