Genetic Screening and Testing

Peter T Rowley, University of Rochester, Rochester, New York, USA
Devereux N Saller, University of Virginia, Charlottesville, Virginia, USA
Robert E Shapiro, West Virginia University, Morgantown, West Virginia, USA

Published online: May 2005

DOI: 10.1038/npg.els.0003848

Genetic screening is the systematic search in a population for individuals with a particular genetic disease or genotypes. The usual purpose is to detect persons who themselves are at risk or whose offspring are at risk for a genetic disease or a genetically determined susceptibility to an environmental agent. Genetic testing is performed to determine the genotype of an individual suspected of having a mutation because of suggestive clinical features or a genetic relationship to a person known to have the genetic abnormality in question.

Keywords: prenatal diagnosis; newborn screening; carrier screening

 References
    book Andrews LB, Fullarton JE, Holtzman NA and Motulsky AG (eds) (1994) Assessing Genetic Risks: Implications for Health and Social Policy Washington, DC: National Academy Press.
 Further Reading
    Allen DB and Farrell PM (1996) Newborn screening: principles and practice. Advances in Pediatrics 43: 231–270.
    Bodmer WF (1997) Genetic diversity and disease susceptibility. Philosophical Transactions of the Royal Society of London Series B 352: 1045–1050.
    book Brock, DJH; Rodeck, CH and Ferguson-Smith, MA (eds) (1992) Prenatal Diagnosis and Screening. New York: Churchill Livingstone.
    Khoury MJ and the Genetics Working Group (1996) From genes to public health: the applications of genetic technology in disease prevention. American Journal of Public Health 86: 1717–1722.
    Korf B (1995) Molecular diagnosis. New England Journal of Medicine 332: 1218–1220, 1499–1502.
    book Nicolaides KH, Neil JS and Sniders RS (1999) The 11–14 Week Scan The Diagnosis of Fetal Abnormalities New York: Parthenon Publishing.
    book Simpson JL and Elias S (eds) (1993) Essentials of Prenatal Diagnosis. New York: Churchill Livingstone.

Related Sub-Topics:

Techniques and Tools in Clinical Genetics | Inter-Individual Variation and Polymorphism | Forensic Genetics | Bioinformatics and Genetic Disease | Genetic Counseling | Techniques and Tools in Molecular Biology | Computational Molecular Biology
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Article Title: Genetic Screening and Testing
 
How to Cite close
Rowley, Peter T, Saller, Devereux N, and Shapiro, Robert E(May 2005) Genetic Screening and Testing. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0003848]