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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。

相似文献

1
Genetics: an explosion of knowledge is transforming clinical practice.遗传学:知识的激增正在改变临床实践。
Geriatrics. 1999 Jan;54(1):41-7; quiz 48.
2
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性基因检测
J Clin Oncol. 2003 Jun 15;21(12):2397-406. doi: 10.1200/JCO.2003.03.189. Epub 2003 Apr 11.
3
Genomic medicine: who will practice it? A call to open arms.基因组医学:谁将从事这一领域?呼吁热情接纳。
Am J Med Genet. 2001 Fall;106(3):216-22. doi: 10.1002/ajmg.10008.
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A revolution in genetics: changing medicine, changing lives.遗传学领域的一场革命:改变医学,改变生活。
Physician Exec. 2001 Mar-Apr;27(2):58-63.
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Genetic susceptibility to breast and ovarian cancer: risk assessment, genetic counseling, and management issues.乳腺癌和卵巢癌的遗传易感性:风险评估、遗传咨询及管理问题。
Mo Med. 2004 Mar-Apr;101(2):105-10; quiz 110-1.
6
The Human Genome Project in the United States: a perspective on the commercial, ethical, legislative and health care issues.美国的人类基因组计划:关于商业、伦理、立法及医疗保健问题的视角
J Int Bioethique. 1991 Jul-Sep;2(3):149-57.
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[Medical applications of genome discovery].
Rev Med Chil. 2001 Nov;129(11):1328-32.
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The mysteries of the human genome uncovered--medicine is changed forever.
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Ethical issues in human genetic technology.
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[Decoding of the human genome: a milestone, but not the end of the road].
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Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.评估一般人群中显性孟德尔形式糖尿病相关基因罕见变异的表型效应。
Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6.
2
Mapping the gene ontology into the unified medical language system.将基因本体映射到统一医学语言系统中。
Comp Funct Genomics. 2004;5(4):354-61. doi: 10.1002/cfg.407.
3
Genetics of migraine and pharmacogenomics: some considerations.偏头痛的遗传学与药物基因组学:一些思考
J Headache Pain. 2007 Dec;8(6):334-9. doi: 10.1007/s10194-007-0427-2. Epub 2007 Dec 5.
4
Assessing the cost-effectiveness of pharmacogenomics.评估药物基因组学的成本效益。
AAPS PharmSci. 2000;2(3):E29. doi: 10.1208/ps020329.