Public Health Genomics


Public health genomics is a subspecialty within public health that deals with the application of genetics, genomics and molecular science to the promotion of health and the prevention of disease. Its subject matter is multidisciplinary in scope and requires an understanding not just of scientific advances, but also the population sciences, biostatistics and epidemiology, and the humanities and social sciences. Its fundamental concept is that genetic variation is an important determinant of health, and that all human traits and pathology come about as a consequence of the combined effects of genetic and environmental factors. These considerations have important implications for the future practice of public health across all its roles: health protection, health promotion and the development and organisation of health services. Its impact is not only just on inherited disorders, but also across the entire range of infectious and noncommunicable diseases. Public policy and regulatory frameworks will need to be adapted to ensure the responsible implementation of genomeā€based knowledge and technologies within society.

Key Concepts:

  • Public health genomics is multidisciplinary, with its knowledge base deriving from not just genetic and molecular science, but also from the population sciences, the humanities and social sciences.

  • Public health genomics relies on understanding that genetic variation is an important determinant of health, and that all human traits and pathology comes about as a consequence of the combined effects of genetic and environmental factors.

  • The mission of public health genomics is to improve population health through the use of knowledge and technologies in an effective and responsible manner.

  • Public health professionals must ensure that they understand the part played by genetic variation and other molecular and cellular processes, and how that understanding can be used to contribute to the health of individuals and populations.

  • Training and education, improving the utility and efficiency of research, ensuring safe and effective services and technologies, supporting the development of relevant public policy and of health service provisions are all essential activities within public health genomics.

Keywords: public health; public health genetics; public health genomics; genomics and health policy; public policy; ethical, legal and social; stratified medicine; personalised medicine

Figure 1.

The Public Health Genomics Enterprise.



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Further Reading

Khoury MJ (2011) What are the Priorities for Public Health Genomics 2012–2017?‐are‐the‐priorities‐for‐public‐health‐genomics‐2012‐2017/. Accessed 28.02,2012.

Web Links

Office of Genetics and Disease Prevention website. Centers for Disease Control and Prevention, Atlanta, USA.

PHG Foundation (Foundation for Genomics and Population Health) web site, Cambridge, UK.

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Zimmern, Ronald L(May 2012) Public Health Genomics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005945.pub2]