Genetic Testing

Genetic Testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

Types of Genetic Testing

There are several types of genetic testing:

• Newborn screening is used just after birth to identify genetic disorders that can be treated early in life.
• Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition.
• Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.
• Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth.
• Predictive and presymptomatic testing is used to detect gene mutations associated with disorders that appear after birth, often later in life.

Benefits and Risks

Genetic testing has potential benefits whether the test results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. However, genetic testing can also cause anxiety and other emotional or financial burdens.

Ethical, Legal, and Social Issues

Genetic testing raises many ethical, legal, and social issues. These include issues of privacy, confidentiality, decision-making, discrimination, and access to health care.

See Also

• Genetic counseling
• Genetic disorder
• Genome sequencing
• Personalized medicine