What is the purpose of genetic testing?
Genetic testing can provide information about a person's genetic background. Uses of genetic testing include:
Newborn screening is used after birth to identify genetic disorders that can be treated early in life. In the United States, millions of babies are tested each year. The U.S. Health Services and Resources Administration recommends that states screen for a set of 35 conditions, which many states exceed.
Diagnostic tests are used to identify or rule out specific genetic or chromosomal conditions. In many cases, genetic testing is used to confirm the diagnosis when a specific condition is suspected based on physical signs and symptoms. Diagnostic tests can be performed before birth or at any time in a person's life, but are not available for all genes or all inherited conditions. The results of diagnostic tests can influence a person's choices about health care and disease management.
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, can cause a genetic disorder. This type of test is offered to individuals with a family history of genetic disorders and to people in certain ethnic groups who are at increased risk for specific genetic disorders. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic disorder.
Prenatal testing is used to detect genetic or chromosomal changes in the fetus before birth. This type of test is offered during pregnancy if the baby is at increased risk for a genetic or chromosomal disorder. In some cases, prenatal testing can reduce uncertainty for couples or help them make pregnancy decisions. However, it cannot identify all possible genetic diseases and birth defects.
Preimplantation testing, also known as preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of a child with a specific genetic or chromosomal disorder. It is used to detect genetic changes in embryos created using assisted reproductive technologies (ART) such as in vitro fertilization (IVF). In vitro fertilization involves removing egg cells from a woman's ovaries and fertilizing them with sperm cells outside the body. For preimplantation testing, a small number of cells are removed from these embryos and tested for certain genetic changes. Only embryos without these changes can implant in the uterus to start a pregnancy.
Predictive and presymptomatic testing
Predictive and presymptomatic types of tests are used to detect genetic mutations associated with diseases that appear after birth, usually later in life. These tests may be helpful for people who have family members with a genetic disorder but who do not have the disease itself at the time of the test. Predictive tests can identify mutations that increase a person's risk of developing genetic diseases, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a person's risk of developing a particular disease and help make decisions about health care.
Forensic testing uses DNA sequences to identify individuals for legitimate purposes. Unlike the tests above, forensic tests are not used to detect genetic mutations associated with the disease. This type of test can identify crime or disaster victims, exclude or implicate criminal suspects, or establish biological relationships between people (eg, parent-child relationships).
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