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述评:在儿科和基因组发现的交叉点上开拓研究议程——基因组学和儿童健康心理方面述评。

Commentary: trailblazing a research agenda at the interface of pediatrics and genomic discovery--a commentary on the psychological aspects of genomics and child health.

机构信息

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-2073, USA.

出版信息

J Pediatr Psychol. 2009 Jul;34(6):662-4. doi: 10.1093/jpepsy/jsn125. Epub 2009 Jan 7.

DOI:10.1093/jpepsy/jsn125
PMID:19129267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2722104/
Abstract

Unprecedented advances in human genome science are underway with potential to benefit public health. For example, it is estimated that within a decade, geneticists and epidemiologists will complete a catalog of the majority of genes associated with common chronic diseases. Such rapid advances create possibilities, if not the mandate, for translational research in how best to apply these and other anticipated discoveries for both individual and population health benefit. Driving these discoveries are rapid advances in infrastructure (e.g., the International HapMap Project to catalog human genetic variation; http://www.hapmap.org), analytical methods, and technology. This expansion in capabilities quickly has taken us from a genetics paradigm-where the influence of individual genes on health outcomes is paramount, to a genomics paradigm-where the complex influence of individual genes is considered in concert with each other and with environmental exposures on health outcomes. We discuss these and similar groundbreaking discoveries with an eye toward understanding their importance to child health and human development, and the role of behavioral science research conducted at the interface of pediatrics and genomic discovery.

摘要

人类基因组科学正在取得前所未有的进展,有望造福公众健康。例如,据估计,在未来十年内,遗传学家和流行病学家将完成与常见慢性疾病相关的大多数基因目录。如果不是为了命令,这些快速进展也为转化研究创造了可能性,即如何最好地将这些发现和其他预期的发现应用于个人和人群健康。推动这些发现的是基础设施的快速进步(例如,国际人类基因组单体型图计划,以编目人类遗传变异;http://www.hapmap.org)、分析方法和技术。这种能力的扩展使我们迅速从一个遗传学范式——个体基因对健康结果的影响至关重要——转变为一个基因组学范式——在这个范式中,个体基因的复杂影响被认为是相互关联的,并且与环境暴露对健康结果的影响也是相互关联的。我们讨论了这些发现以及类似的开创性发现,以期了解它们对儿童健康和人类发展的重要性,以及在儿科和基因组发现界面进行的行为科学研究的作用。