Genetic Screening and Testing


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


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.

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.

Nicolaides KH, Neil JS and Sniders RS (1999) The 11–14 Week Scan The Diagnosis of Fetal Abnormalities New York: Parthenon Publishing.

Simpson JL and Elias S (eds) (1993) Essentials of Prenatal Diagnosis. New York: Churchill Livingstone.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

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. [doi: 10.1038/npg.els.0003848]