Linda Crnic Institute for Down Syndrome, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):7-9. doi: 10.1016/j.ymgme.2011.07.008. Epub 2011 Jul 19.
As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome.
随着全基因组分析成本的降低，我们有机会探索个体中各种基因变化的相互作用，从而导致其特定的表型。这将提供从对群体进行流行病学研究的方式转变的能力，在这种方式中，个体被集体地、同质化地对待，转变为个性化医疗，以及一种将个体视为独特实体进行识别和治疗的模式。我们将把个性化医疗应用于唐氏综合征患者，以了解和开发用于增加合并症风险的生物标志物。个性化医疗将改变唐氏综合征的“难治性文化”。
