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Meeting the present and future challenges of genetic disease

Bittles, A.H. (2004) Meeting the present and future challenges of genetic disease. In: Genetics and Population Health, 8 - 10 August 2004, Fremantle, Western Australia


Despite the wealth of information made available by the Human Genome Project, genetic disease is still subject to widespread public misunderstanding and to the associated possibility of health-and employment-based discrimination. This presents a major educational challenge to all involved, whether health professionals or members of support groups, and applies equally in developed and low income countries. Many of the concerns expressed with regard to genetic disease reveal a basic lack of knowledge of population genetic structure. This in turn creates difficulties in assessing the prevalence and distribution patterns of specific disorders, and in providing appropriate clinical and counselling advice, whether in western multi-ethnic societies or more traditional populations characterized by longstanding ethnic, clan or religious divisions. Given the bioinformatics capacity now widely and inexpensively available, there should be no major impediment to the development of community, regional, national or even international databases and registers for genetic diseases, with rapid transfer of information between centres. Yet, even in developed countries, remarkably few comprehensive disease registers are operational and the numbers of affected persons often remain unrecorded. Without reliable disease prevalence data, diagnoses will continue to be made largely on an individual or family basis and the knowledge-, time- and cost-efficiencies possible through a Community Genetics/Public Health Genetics approach to case-finding will be squandered. In the face of continuing financial stringencies and restricted health budgets in virtually all countries, this is an area that merits urgent action.

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