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Genomics and the changing profile of human disease

Bittles, A.H. (2003) Genomics and the changing profile of human disease. Biology International (45). pp. 3-8.

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Within the last decade, much has been written on the impending impact of the Human Genome Project on human health. A typical perspective was offered in 1995 as part of the submission of the Royal College of Physicians to the Science and Technology Committee of the U.K. House of Commons. In describing the future contribution of genetics to medical practice it was stated that, ‘The process has scarcely begun and may not have a major clinical impact for many years; however it represents the change from empirical to rational management of disease and hence its significance can hardly be exaggerated’. Clearly, any body of knowledge that could effect such a change would be of global importance, and if this and similar predictions prove to be correct, they would match in significance the revolution in medical practice provoked by the anatomical discoveries of the Renaissance period.

The Human Genome Project was initiated in 1991, and by 2001, the first consensus sequence of the human genome was simultaneously published by publicly supported researchers (International Human Genome Sequencing Consortium 2001) and the privately financed Celera Genomics (Venter et al. 2001). Access to the growing database on genome structure and function made available through the Human Genome Project has greatly assisted medical researchers, and as a result, by March 2003 over 14,000 single gene disorders affecting both the human nuclear and mitochondrial genomes had been identified (OMIM 2003).

Of itself, the recognition of specific and often very rare mutations is unlikely to change medical practice or to impinge on the everyday lives of the vast majority of the world’s population. Data on the contribution of predisposing genes to common diseases is still rudimentary, and there is limited information on non-biological factors that influence the genetic structure of human populations and thereby govern the distribution and transmission of disease mutations. An appreciation of the importance of these topics has, however, gradually been emerging, accompanied by the establishment of two new academic disciplines, Community Genetics and Public Health Genetics. The aim of this article is to briefly review the potential influence and effects of these changes on the future profile of genetic disease in industrialized and developing countries.

Publication Type: Journal Article
Publisher: The International Union of Biological Sciences (IUBS)
Copyright: 2003 IUBS
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