Bell John
University of Oxford, Academic Centre, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK.
Nature. 2004 May 27;429(6990):453-6. doi: 10.1038/nature02624.
Information from the human genome sequence will eventually alter many aspects of clinical practice. It will increase through our understanding of disease mechanisms, and guide the development of new drugs and therapeutic procedures. In the short term, however, knowledge of the genome will have a profound clinical impact on the diagnostic capability of clinical genetics laboratories. Molecular phenotyping using genetic and genomic information will allow early and more accurate prediction and diagnosis of disease and of disease progression. Medicine will become oriented towards disease prevention rather than efforts to cure people at late stages of illness.
人类基因组序列信息最终将改变临床实践的许多方面。它将增进我们对疾病机制的理解,并指导新药和治疗程序的开发。然而,短期内,基因组知识将对临床遗传学实验室的诊断能力产生深远的临床影响。利用遗传和基因组信息进行分子表型分析将有助于早期更准确地预测和诊断疾病以及疾病进展。医学将朝着疾病预防的方向发展,而不是致力于在疾病晚期治疗患者。