genetic screening, the process of investigating a specific population of persons for the purpose of detecting the presence of disease, either incipient or overt, such as the generalized screening of all newborns for phenylketonuria. Genetic screening may be used to identify those who possess defective genes, gain information concerning the incidence of a disorder in the population, and provide reproductive information, specifically to those at risk, such as the close relatives of persons affected with inborn errors of metabolism or those in certain ethnic groups who have a high incidence of a particular disease, specifically sickle cell anemia in African-Americans and Tay-Sachs disease in Ashkenazic Jews. When accompanied by education and counseling, mass screening programs can be effective in the management of genetic disorders. See also genetic counseling.
