Guttmacher Alan E, Porteous Mary E, McInerney Joseph D
National Human Genome Research Institute, Building 31, Room 4B09, Bethesda, MD 20892-2152, USA.
Nat Rev Genet. 2007 Feb;8(2):151-7. doi: 10.1038/nrg2007.
To biomedical researchers, this is the 'genome era'. Advances in genetics and genomics such as the sequence of the human genome, the human haplotype map, open access databases, cheaper genotyping and chemical genomics have already transformed basic and translational biomedical research. However, for most clinicians, the genome era has not yet arrived. For genomics to have an effect on clinical practice that is comparable to its impact on research will require advances in the genomic literacy of health-care providers. Here we describe the knowledge, skills and attitudes that genomic medicine will require, and approaches to integrate them into the health-care community.
对于生物医学研究人员而言,这是“基因组时代”。遗传学和基因组学的进展,如人类基因组序列、人类单倍型图谱、开放获取数据库、更廉价的基因分型以及化学基因组学,已经改变了基础和转化性生物医学研究。然而,对于大多数临床医生来说,基因组时代尚未到来。要使基因组学对临床实践产生与对研究的影响相当的效果,将需要提高医疗保健提供者的基因组素养。在此,我们描述基因组医学所需的知识、技能和态度,以及将它们融入医疗保健领域的方法。