Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hum Genet. 2011 Jul;130(1):103-21. doi: 10.1007/s00439-011-1001-1. Epub 2011 May 19.
"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease--as well as screening, counseling, and disease gene identification--in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.
“基因组医学”是指在个体患者的个人基因组所提供的信息背景下，对疾病进行诊断、优化管理和治疗——以及进行筛查、咨询和疾病基因鉴定。在一定程度上与“个性化医学”同义的基因组医学，得益于近年来基因组技术的进步。基因组医学代表了一种新的医疗保健和疾病管理方法，试图根据从患者个人基因组序列中收集的信息来优化对患者的护理。在这篇综述中，我们描述了与神经疾病相关的基因组医学的最新进展。许多神经疾病要么作为孟德尔表型分离，要么偶尔与单个基因中的新突变相关联。遗传性也导致了其他似乎表现出更复杂遗传的神经疾病。除了讨论该领域的现有知识外，我们还就基因组医学领域的发展提出了在临床实践中最大限度地利用基因组信息的建议。
