Oates J T, Lopez D
Department of Pharmaceutical Sciences, Biomanufacturing Research Institute and Technology Enterprise (BRITE), College of Arts and Sciences, North Carolina Central University, USA.
Int J Biomed Investig. 2018;1(2). doi: 10.31531/2581-4745.1000111. Epub 2018 May 27.
Since the human genome project in 2003, the view of personalized medicine to improve diagnosis and cure diseases at the molecular level became more real. Sequencing the human genome brought some benefits in medicine such as early detection of diseases with a genetic predisposition, treating patients with rare diseases, the design of gene therapy and the understanding of pharmacogenetics in the metabolism of drugs. This review explains the concepts of pharmacogenetics, polymorphisms, mutations, variations, and alleles, and how this information has helped us better understand the metabolism of drugs. Multiple resources are presented to promote reducing the gap between scientists, physicians, and patients in understanding the use and benefits of pharmacogenetics. Some of the most common clinical examples of genetic variants and how pharmacogenetics was used to determine treatment options for patients having these variants were discussed. Finally, we evaluated some of the challenges of implementing pharmacogenetics in a clinical setting and proposed actions to be taken to make pharmacogenetics a standard diagnostic tool in personalized medicine.
自2003年人类基因组计划完成以来,在分子水平上改善疾病诊断和治疗的个性化医疗观点变得更加切实可行。对人类基因组进行测序给医学带来了一些益处,比如早期发现具有遗传易感性的疾病、治疗罕见病患者、设计基因疗法以及了解药物代谢中的药物遗传学。本综述解释了药物遗传学、多态性、突变、变异和等位基因的概念,以及这些信息如何帮助我们更好地理解药物代谢。还介绍了多种资源,以促进缩小科学家、医生和患者在理解药物遗传学的用途和益处方面的差距。讨论了一些最常见的基因变异临床实例,以及如何利用药物遗传学为具有这些变异的患者确定治疗方案。最后,我们评估了在临床环境中实施药物遗传学所面临的一些挑战,并提出了为使药物遗传学成为个性化医疗中的标准诊断工具而应采取的行动。