人类基因组计划对医学科学发展的意义
[引自JAMA 2001 Feb 7;285(5):540-544]
2000年不仅标志着新千年的开端，而且还标志着绝大多数人类基因组测序工作已经完成。目前尚需进行大量的工作，以了解这一“人类生物学指导手册”是如何完成其多种功能的。但是，人类基因组给医学实践带来的后果可能是很深远的。对个体罹患疾病的危险以及个体对药物的反应等进行遗传预测将是未来十年左右的医学主流。随后，不久就将开始进行设计药物的研制，这些设计药物将建立在以疾病过程中受损的分子途径为主要目标的基因组方法基础上。有可能出现误用遗传信息的现象，如在争取健康保险或工作场所产生歧视，都应该迅速、有效地解决。基因药物在许多疾病的诊治革命中仍占据着绝对的优势，很有前景。
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.
