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  • 标题:Genetics in Population Health Science: Strategies and Opportunities
  • 本地全文:下载
  • 作者:Daniel W. Belsky ; Terrie E. Moffitt ; Avshalom Caspi
  • 期刊名称:American journal of public health
  • 印刷版ISSN:0090-0036
  • 出版年度:2013
  • 卷号:103
  • 期号:Suppl 1
  • 页码:S73-S83
  • DOI:10.2105/AJPH.2012.301139
  • 语种:English
  • 出版社:American Public Health Association
  • 摘要:Translational research is needed to leverage discoveries from the frontiers of genome science to improve public health. So far, public health researchers have largely ignored genetic discoveries, and geneticists have ignored important aspects of population health science. This mutual neglect should end. In this article, we discuss 3 areas where public health researchers can help to advance translation: (1) risk assessment: investigate genetic profiles as components in composite risk assessments; (2) targeted intervention: conduct life-course longitudinal studies to understand when genetic risks manifest in development and whether intervention during sensitive periods can have lasting effects; and (3) improved understanding of environmental causation: collaborate with geneticists on gene–environment interaction research. We illustrate with examples from our own research on obesity and smoking. With the completion of the Human Genome Project, discoveries linking variations in the DNA sequence with common health conditions have come thick and fast. Translational science that applies these discoveries to reveal novel drug targets, refine treatments, or prospectively identify individuals at risk has progressed at a slower pace. 1,2 This slow progress reflects appropriately high standards for the clinical application of genetic discoveries. 3 It also reflects the fact that a large portion of the translational research community has remained on the sidelines of genome science. In the early days of genetic discovery research, it was appropriate for social, behavioral, and health scientists doing public health research to take a “wait and see” approach to genetic discoveries. That time is now past. Personalized medicine is bringing the genome into the clinic, and direct-to-consumer genetic testing is bringing it into the community. 4,5 Biologists are working hard to elucidate molecular pathways that link genetic discoveries with disease. Parallel efforts are needed in the fields of life-course epidemiology, health behavior and health education, and health services research to understand the developmental and behavioral pathways from genetic discoveries to disease and to identify opportunities for cost-effective intervention. Public health research is uniquely positioned to contribute to the translation of genetic discoveries because of its population approach to health science. Population-representative samples, prospective longitudinal designs, and measurements of environmental context are critical to understanding how genetic risks manifest across time (e.g., development and aging) and space (e.g., policy and environmental risk strata). In turn, this population health science understanding of genetic risk can inform disease etiology and help to refine both individual- and population-level intervention strategies. In this article, we address 3 areas where public health researchers can help to advance translation: (1) risk assessment, (2) targeted intervention, and (3) improved understanding of environmental causes of disease. We discuss the progress of discovery science as it relates to each of these applications, and we explain how public health research can contribute to translation. We also present example cases from own work on obesity and smoking, and we outline new research directions.
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