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遗传学:知识的激增正在改变临床实践。

Genetics: an explosion of knowledge is transforming clinical practice.

作者信息

Collins F S

机构信息

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

Geriatrics. 1999 Jan;54(1):41-7; quiz 48.

PMID:9934355
Abstract

Genetics is considered by many to be the field in which the next revolution in medicine will occur. The Human Genome Project, which is an effort to map the entire sequence of human DNA, is already leading to better diagnostics and therapeutics for clinical medicine. The ultimate goal of genetic medicine is to learn how to prevent disease or to treat it with gene therapy or a drug developed specifically for the underlying defect. Other applications include pharmacogenomics and patient counseling about individual health risks, which will be facilitated by new DNA chip technology. Concerns include how to integrate genetic technology into clinical practice and how to prevent genetic-based discrimination. A new coalition is being developed to educate health professionals about genetic medicine.

摘要

许多人认为遗传学是医学领域中将会发生下一场革命的领域。人类基因组计划旨在绘制人类DNA的完整序列,这已经为临床医学带来了更好的诊断和治疗方法。基因医学的最终目标是学会如何预防疾病,或者通过基因疗法或专门针对潜在缺陷开发的药物来治疗疾病。其他应用包括药物基因组学以及就个人健康风险为患者提供咨询,新的DNA芯片技术将推动这些应用。人们担心的问题包括如何将基因技术融入临床实践以及如何防止基于基因的歧视。一个新的联盟正在组建,旨在让医疗专业人员了解基因医学。

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