Public Health Genomics

W. David Dotson and Muin J. Khoury

in Public Health

ISBN: 9780199756797
Published online November 2011 | | DOI:
Public Health Genomics


In the wake of the Human Genome Project’s completion in 2003, the pace of biological discovery and the rate of translation of molecular research findings along the path from “bench” research to clinical “bedside” application continue to accelerate. A plethora of health-related applications of genomic technology have arisen alongside basic research findings and are being adopted into the emerging field of personalized medicine. Public health genomics is a multidisciplinary field that seeks to translate genome-based discoveries into improved population health. It involves application of techniques of classical genetics, as well as more recent advances in molecular biology and biotechnology (including genomic, proteomic, epigenetic, and other methodologies), toward disease prevention and health promotion. Personalized medicine embodies hope, fueled largely by exciting findings in basic research, that genomic discoveries can be applied toward customizing and optimizing aspects of health care (e.g., therapeutics, diagnosis, and/or prediction of risk of particular diseases and informing disease prevention and health promotion strategies) for patients on an individual level. While sharing many similarities in subject matter with the field of personalized medicine, public health genomics differs markedly in taking a population health perspective. Moreover, the heightened expectations for personalized medicine that have emerged alongside growth in basic genomic research necessitate the development of a coordinated and balanced research agenda. This will help ensure responsible translation of applications of genomic technology from bench to bedside and allow evidence-based processes to be applied to the evaluation of genomic applications where necessary to determine their safest and most effective uses in clinical care. This need is all the more pressing, given that the field of genetic testing alone has grown rapidly to include tests for more than 2,000 conditions, according to the GeneTests website (see Journals, Serials, and Other Publications). While most of these may correspond to rare, single-gene disorders, tests for predicting risk of more common and complex diseases and individual physiological responses to specific drugs are also available. Increasingly, tests such as these have become available directly to consumers, opening up the possibility for people to be tested with no involvement of health care providers.

Article.  6888 words. 

Subjects: Public Health and Epidemiology

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