Merikangas Kathleen Ries, Risch Neil
Section on Developmental Genetic Epidemiology, Mood and Anxiety Disorders Program, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Science. 2003 Oct 24;302(5645):599-601. doi: 10.1126/science.1091468.
Given the continuing difficulty of identifying genes for complex disorders in a robust, replicable manner, and the extensive resources devoted to this effort, it is becoming increasingly important to analyze the relative benefits of genomics research for public health applications and for the understanding of disease pathogenesis. To establish priorities for genetics research, we review and evaluate several characteristics of selected exemplary complex diseases, including phenotypic accuracy, knowledge of specific and nonspecific genetic and environmental risk factors, and population prevalence and impact. We propose that complex diseases with the strongest evidence for genetic etiology, limited ability to modify exposure or risk factors, and high public health impact should have the highest priority for genetics research.
鉴于以可靠、可重复的方式识别复杂疾病相关基因仍然困难重重,且为此投入了大量资源,分析基因组学研究在公共卫生应用和疾病发病机制理解方面的相对益处变得越发重要。为确定遗传学研究的优先事项,我们回顾并评估了几种选定的典型复杂疾病的若干特征,包括表型准确性、特定和非特定遗传及环境风险因素的知识,以及人群患病率和影响。我们建议,对于遗传学研究而言,具有最强遗传病因证据、改变暴露或风险因素能力有限且对公共卫生影响极大的复杂疾病应列为最高优先级。