Defining Disease in the Genomics Era

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Science  03 Aug 2001:
Vol. 293, Issue 5531, pp. 807-808
DOI: 10.1126/science.1062938

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With sequencing of the human genome complete and comparative analyses of genetic variations among individuals well under way, there is increasing uncertainty about which variations are associated with disease. In a Science and Society Essay, Temple and colleagues discuss the need for an explicit definition of disease that takes into consideration possible risks and adverse consequences associated with genetic variations, while at the same time acknowledging that a disease cannot be defined by a single genetic variation.

  • §S. Cunningham-Burley, M. Boulton, in Handbook of Social Studies in Health and Medicine, G. L. Albrecht, R. Fitzpatrick, S. C. Scrimshaw, Eds. (Sage Publications Ltd., London, 2000).