Implications of the Human Genome Project for medical science
Implications of the Human Genome Project for medical science
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DOI：
10.1001/jama.285.5.540
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发表时间：
2001-02-07
影响因子：
120.7
通讯作者：
McKusick, VA
中科院分区：
文献类型：
--
作者：
Collins, FS;McKusick, VA
2000年标志着新千年的开始，也标志着人类基因组的绝大多数已经测序。要了解这本“人类生物学指导书”是如何发挥其众多功能的，还有很多工作要做。但对医学实践的影响可能是深远的。对个体疾病风险和药物反应性的基因预测将在未来十年左右成为医学主流。设计药物的开发，基于基因组方法来靶向疾病中被破坏的分子途径，将很快跟进。需要迅速有效地处理滥用遗传信息的可能性，例如在获得医疗保险和工作场所的歧视。基因组医学拥有彻底改变许多疾病的诊断和治疗的最终希望。
The year 2000 marked both the start of the new millennium and the announcement that the vast majority of the human genome had been sequenced. Much work remains to understand how this "instruction book for human biology" carries out its multitudes of functions. But the consequences for the practice of medicine are likely to be profound. Genetic prediction of individual risks of disease and responsiveness to drugs will reach the medical mainstream in the next decade or so. The development of designer drugs, based on a genomic approach to targeting molecular pathways that are disrupted in disease, will follow soon after. Potential misuses of genetic information, such as discrimination in obtaining health insurance and in the workplace, will need to be dealt with swiftly and effectively. Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses.