Pharmacogenetics Platform, Instituto de Investigación Sanitaria la Fe, Valencia 46026, Spain.
Department of Pharmacology, University of Valencia, Valencia 46010, Spain.
Pharmacogenomics. 2019 Jul;20(10):741-763. doi: 10.2217/pgs-2019-0041. Epub 2019 Aug 1.
Pharmacogenetics (PGx) in clinical practice is a tool that the clinician can use to guide, in a personalized way, the most suitable treatment that will be administered to the patient. The objective of this review is to summarize in a practical and accessible rational way, the advances that currently exist for the application of PGx in colorectal cancer chemotherapy management through the study of the patients' germline polymorphisms. To define the polymorphisms that can be applied, we rely on three fundamental cornerstones: the recommendations of drug regulatory agencies; the implementation guidelines prepared by expert consortia in PGx and information from clinical annotations (the drug/polymorphism relation) according to the scientific level of evidence assigned by PharmGKB experts.
临床实践中的药物遗传学（PGx）是一种工具，临床医生可以使用它来个性化地指导为患者提供最合适的治疗方法。本综述的目的是总结目前通过研究患者种系多态性在结直肠癌化疗管理中应用 PGx 的进展，以一种实用且易于理解的方式呈现出来。为了定义可应用的多态性，我们依赖于三个基本基石：药物监管机构的建议；PGx 专家小组制定的实施指南以及临床注释中的信息（药物/多态性关系），根据 PharmGKB 专家分配的证据科学水平。
