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Population Screening for Genetic Disorders

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Molecular Genetics in Medicine

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Abstract

In general, screening whole or parts of populations is concerned with detecting diseases when they are asymptomatic so that useful treatment can be initiated, or with detecting individuals at risk for certain diseases, so that prophylaxis can be initiated (Cuckle and Wald, 1984; Wald and Cuckle, 1989). Examples of the former are the detection of rhesus isoimmunisation in pregnant women, and of phenylketonuria in neonates; and examples of the latter would be screening for glucose-6-phosphate dehydrogenase or alpha-l-antitrypsin deficiencies. The essential requirements of a screening programme are that the benefit of such intervention exceeds the cost of screening and the anxiety engendered in those picked out by the screening test but found subsequently to be unaffected. The ultimate goal of screening is to prevent disease.

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Authors
  1. Sarah Bundey
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Editor information

Editors and Affiliations

  1. Professor of Human Genetics, University of Newcastle upon Tyne, UK

    D. F. Roberts

  2. Senior Lecturer in Sociology, University of Hull, UK

    Robert Chester

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© 1991 The Galton Institute

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Bundey, S. (1991). Population Screening for Genetic Disorders. In: Roberts, D.F., Chester, R. (eds) Molecular Genetics in Medicine. Palgrave Macmillan, London. https://doi.org/10.1007/978-1-349-10874-9_9

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