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[药物基因组学]

[Pharmacogenomics].

作者信息

Nakatani Kaname, Nobori Tsutomu

机构信息

Division of Clinical Laboratory, Mie University Hospital, Tsu 514-8507, Japan.

出版信息

Rinsho Byori. 2013 Nov;61(11):1018-25.

Abstract

Personalized medicine based on pharmacogenomics is being developed at the clinical stage. Pharmacogenomics involve the study of the role of genomic variation in individual variations in drug response, a phenotype that varies from potentially life-threatening adverse drug reactions to an equally serious lack of therapeutic efficacy. These developments in pharmacogenomics are strongly supported by marked innovations in genetic analyses. The molecular targets of clinical pharmacogenomics are the genetic and genomic factors of both the patient and the pathological organ. Molecular target drugs have become standard treatments in cancer therapy. The efficacy of these drugs can be predicted by characterization of the molecular target before administration. Such characterization for treatment guidance is called companion diagnostics. Companion diagnostics are tests that are intended to assist physicians in making treatment decisions for their patients based on the best response to therapy. Moreover, companion diagnostic co-development can highly change the drug development process and clinical trials by significantly yielding safer drugs with better therapeutic efficacy in a faster, more cost-effective way. However, many companies are interested in the development of companion diagnostics for targeted therapies in specific fields such as cancer. Thus, there are currently no potential companion diagnostics for common diseases. As common diseases are multifactorial, multiplex testing is required to predict therapeutic efficacy. The development of multiplex companion diagnostics is anticipated for the expansion of personalized medicine.

摘要

基于药物基因组学的个性化医疗正处于临床研发阶段。药物基因组学涉及研究基因组变异在个体药物反应差异中的作用,这种表型差异涵盖了从可能危及生命的药物不良反应到同样严重的治疗效果不佳等情况。药物基因组学的这些发展得到了基因分析显著创新的有力支持。临床药物基因组学的分子靶点是患者和患病器官的遗传及基因组因素。分子靶向药物已成为癌症治疗的标准疗法。这些药物的疗效可在给药前通过对分子靶点的特征分析来预测。这种用于治疗指导的特征分析称为伴随诊断。伴随诊断是旨在帮助医生根据对治疗的最佳反应为患者做出治疗决策的检测。此外,伴随诊断的共同开发能够通过以更快、更具成本效益的方式显著生产出更安全、治疗效果更好的药物,从而极大地改变药物研发过程和临床试验。然而,许多公司对开发针对癌症等特定领域靶向治疗的伴随诊断感兴趣。因此,目前尚无针对常见疾病的潜在伴随诊断方法。由于常见疾病是多因素的,需要进行多重检测来预测治疗效果。预计多重伴随诊断的开发将推动个性化医疗的扩展。

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