Genetic Screening & Testing

Genetic screening and testing are terms often used interchangeably to refer to any testing performed to identify a specific gene. Testing can determine how likely a person is to develop a disorder, or if they could pass on a disease to their children.

There are various types of genetic testing which can be grouped by the purpose of testing (each of these are described below):

  • Diagnostic testing is performed on an individual who is suspected of having a specific genetic disorder.

  • Carrier screening is performed on an individual who might carry one copy of a disease-causing recessive gene that could be inherited by their children. Carrier screening is designed for healthy people who have no symptoms of disease, but who are known to be at high risk because of family history or ethnicity. The Chicago Center for Jewish Genetic Disorders currently provides a screening program, and can also refer individuals interested in carrier screening.

  • Prenatal testing is performed during a pregnancy to assess the health status of a fetus.

  • Predictive testing is performed on an individual if a specific mutated gene has been identified in their family that is responsible for a disease occurring later in life (late-onset disease), and can be conducted before symptoms appear. It can be done for such disorders as breast, ovarian, and colon cancer, Huntington disease, and heart disease.

  • Newborn screening involves testing of all newborns for certain congenital disorders.

  • Identification testing is a method used to determine the genetic relationship between individuals or even different cells from the same person. It is most often used to establish the identity of a person’s biological father (paternity testing).

Explained above are summaries of testing types and information on how to receive testing. Please select the type of testing you would like to learn more about.

For a discussion of important emotional issues relating to genetic testing and screening, see Non-technical Aspects of Genetic Testing. This information is important to be considered prior to screening or testing because knowledge of your results cannot be unlearned once they are obtained.

For a more technical discussion of genetic testing and screening, see Technical Overview on Screening and Testing. This section discusses the differences between DNA mutational analysis and enzyme assays, when each is appropriate, and the reliability and meaning of test results.