Public Health Genomics

by

W. David Dotson, Muin J. Khoury

• LAST REVIEWED: 29 November 2011
• LAST MODIFIED: 29 November 2011
• DOI: 10.1093/obo/9780199756797-0013

Introduction

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.

General Overviews

Genomics—and its implications in public health and clinical medicine—can be an extremely confusing topic that is often poorly understood even among clinicians. Mikail 2008 is a beginning-level textbook outlining many facets of public health genomics, while the slightly more advanced level text of Stewart, et al. 2007 covers the fundamentals, with emphasis on policy from a UK health care delivery perspective. A more advanced level text is Khoury, et al. 2000. Excellent descriptive overviews of the basics of genomic science appropriate for general clinician readership, including applications of genomic technology in health care, are provided in Feero, et al. 2010. This review is part of a series on genomic medicine in the New England Journal of Medicine. More expansive coverage of similar information, designed for readability among laypersons, can be found on the Genetics Home Reference website. The Human Genome Project, which revolutionized our thinking about genomics in many respects, was completed in 2003. Human Genome Project results have sometimes defied our expectations, for example, in showing that humans possess far fewer genes than were originally anticipated. Detailed information on the Human Genome Project is available through the National Human Genome Research Institute’s (NHGRI) All About the Human Genome Project website and the US Department of Energy’s Human Genome Project Information website. Ginsberg and Willard 2009 provides a relatively brief overview of the present state of genomic and personalized medicine, whereas the two-volume Willard and Ginsberg 2009a and Willard and Ginsberg 2009b covers the field in extraordinary depth. A perspective on personalized medicine that is highly accessible to a broad range of readers is available in Collins 2010.

• All About the Human Genome Project (HGP). National Human Genome Research Institute, National Institutes of Health.

  Fact sheets, general information, and educational tools covering aspects of the Human Genome Project are available through this website.

• Collins, Francis S. 2010. The language of life: DNA and the revolution in personalized medicine. New York: HarperCollins.

  Written by the former director of NHGRI, now the director of the National Institutes of Health (NIH), this book provides a perspective on the promise of personalized medicine that is highly accessible to a broad range of readers.

• Feero, W. Gregory, Alan E. Guttmacher, and Francis S. Collins. 2010. Genomic medicine—An updated primer. New England Journal of Medicine 362:2001–2011.

  DOI: 10.1056/NEJMra0907175

  More than simply an update of Guttmacher and Collins’s 2002 article “Genomic Medicine: A Primer” (New England Journal of Medicine 347:1512–1520), this basic overview of genomics in medicine ventures into an expanded territory, touching on the regulation of gene expression, microarray technologies, the HapMap Project, genome-wide association studies (GWAS), and next-generation sequencing. As with its predecessor, a helpful glossary of terms is included.

• Genetics Home Reference.

  Designed with consumer or lay readership in mind, this website offers numerous resources that are also informative and interesting to clinical and scientific audiences. Fact sheets on the genetics of hundreds of conditions are provided, along with a catalog of information on specific genes, an expansive glossary of terms, and a handbook that offers a virtual education in genetics and molecular biology.

• Ginsburg, Geoffrey S., and Huntington F. Willard. 2009. Genomic and personalized medicine: Foundations and applications. Translation Research 154:277–287.

  DOI: 10.1016/j.trsl.2009.09.005

  This thorough review addresses what genomic medicine and personalized medicine are, discusses family history and genomic information as tools for risk prediction and risk assessment, outlines categories of applications for genomic and personalized medicine (disease susceptibility, diagnostic/prognostic applications, pharmacogenomics, and monitoring) with examples, addresses future prospects for personal genome sequencing, and considers policy issues involved in bringing genomics into clinical practice. Available online by subscription.

• Human Genome Project Information. Genome Science Program, US Department of Energy Office of Science.

  This authoritative website contains information on the history, goals, and results of the Human Genome Project. Additionally, links to a wide variety of resources, including key publications from the project; sequence databases; a Gene Gateway Workbook to guide users through freely accessible genomics web tools such as GeneReviews; and information on ethical, legal, and social issues associated with genomics are included.

• Khoury, Muin J., Wylie Burke, and Elizabeth J. Thomson, eds. 2000. Genetics and public health in the 21st century: Using genetic information to improve health and prevent disease. Oxford Monographs on Medical Genetics 40. New York: Oxford Univ. Press.

  An intermediate- to advanced-level text on public health genomics, this book offers an overview of genetics in the field of public health and then covers public health assessment; the evaluation of genetic tests; interventions on a population level; education; and health communication along with ethical, legal, and social questions surrounding genomics in public health.

• Mikail, Claudia N. 2008. Public health genomics: The essentials. San Francisco: Jossey-Bass.

  An introductory overview of public health genomics, this text offers an extensive breadth of coverage. The role of government in genomics is presented from a US perspective, and background on basic genetic science is presented before delving into health-related applications of genomics. Overall, it would be difficult, if not impossible, to find more basic information on public health genomics in a single source than is presented in this introduction.

• Stewart, Alison, Philippa Brice, Hilary Burton, Paul Pharoah, Simon Sanderson, and Rod Zimmern. 2007. Genetics, health care and public policy: An introduction to public health genetics. Cambridge, UK: Cambridge Univ. Press.

  This is another fine introductory textbook covering all the fundamentals of public health genomics while giving unique and helpful emphasis on policy from a UK perspective.

• Willard, Huntington F., and Geoffrey S. Ginsburg, eds. 2009a. Genomic and personalized medicine. Vol. 1. Boston: Elsevier/Academic Press.

  Volume 1 of a two-volume set that is practically exhaustive in covering the present state of personalized and genomic medicine. Beginning with basic human genomics, this volume goes on to cover genomic technology platforms and informatic issues in genomics before introducing translation of genome-based technologies into clinical practice. Five chapters are devoted to public health genomics.

• Willard, Huntington F., and Geoffrey S. Ginsburg, eds. 2009b. Genomic and personalized medicine. Vol. 2. Amsterdam and Boston: Elsevier/Academic Press.

  Volume 2 of the nearly exhaustive two-volume set on the state of personalized and genomic medicine. This volume is devoted to clinical applications of genomic technology, with several chapters under each of the following headings: Cardiovascular Disease, Cancer, Inflammatory Disease, Metabolic Disorders, Neuropsychiatric Disorders, and Infectious Disease.