Idemyor Vincent
1Visiting Professorship Program, University of Port Harcourt, Port Harcourt, River State, Nigeria; and 2Department of Medicine, University of Illinois College of Medicine, Chicago, IL.
Am J Ther. 2014 Nov-Dec;21(6):548-53. doi: 10.1097/MJT.0b013e3182583bd1.
Our perception of the mechanism by which single genes can cause disease is evolving. This has led to the understanding of the pathophysiological basis of common diseases. Genomic Medicine continues to contribute to the understanding of the molecular basis of disease. Medicine has strived to achieve the goal of tailoring interventions to individual variations in risk and treatment response and advances in medical genomics will facilitate this process. Relevant to present-day practice is the use of genomic information to classify individuals according to disease susceptibility or expected responsiveness to a pharmacologic treatment and to provide targeted interventions. By investigating the genetic profile of individuals, medical professionals are able to select patients and use the information obtained to plan out a course of treatment that is much more in step with the way their body works. However, society is concerned about the effect genetic knowledge will have on ethnic or racial groups. Currently, the Health Insurance Portability and Accountability Act prohibits discrimination based on genetics. There is a need to increase the understanding of the social and ethical challenges that genomics information may pose to clinicians and scientists. This review is not meant to be exhaustive; rather, clinically relevant examples are used to illustrate how genomic medicine can facilitate the provision of molecular diagnostic methods that improve drug therapy. Finally, the rapid pace of change in genomics may likely make my conclusions today obsolete tomorrow.
我们对于单基因引发疾病机制的认知正在不断演变。这使得人们对常见疾病的病理生理基础有了更深入的理解。基因组医学持续助力于对疾病分子基础的认识。医学一直在努力实现根据个体在风险和治疗反应方面的差异来定制干预措施这一目标,而医学基因组学的进展将推动这一进程。与当今实践相关的是利用基因组信息根据疾病易感性或对药物治疗的预期反应性对个体进行分类,并提供针对性的干预措施。通过研究个体的基因图谱,医学专业人员能够挑选患者,并利用所获得的信息规划出更符合其身体运作方式的治疗方案。然而,社会担心基因知识会对种族群体产生影响。目前,《健康保险流通与责任法案》禁止基于基因的歧视行为。有必要增进对基因组学信息可能给临床医生和科学家带来的社会和伦理挑战的理解。本综述并非详尽无遗;相反,将使用临床相关实例来说明基因组医学如何能够促进提供改善药物治疗的分子诊断方法。最后,基因组学领域快速的变化节奏可能会使我今天得出的结论明天就过时。