Family Planning Boards
Genetic counseling provides information, offers support, and addresses a couple's specific questions and concerns. This counseling can be done by a physician or a genetics specialist. Genetic tests are an important tool in genetic counseling, but they are not always needed to predict the risk of developing or passing on a disorder. Most of the genetic disorders for which testing is currently available on a clinical or research basis are rare, and many genetic tests are expensive and complex to perform.
A genetics counselor can often glean a great deal of information just from your family health history, your personal health history, and any signs and symptoms of the disorder that you or your child might exhibit. In some cases, standard, non-genetic medical tests can also reveal the presence of inherited disorders.
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results to a person's doctor or genetic counselor.
If a person is diagnosed with a genetic condition, the genetics professional provides information about the diagnosis, how the condition is inherited, the chance of passing the condition to future generations, and the options for testing and treatment.
Genetic testing is a personal choice. Because testing has both benefits and limitations, the decision about whether to be tested is a personal and complex one. A genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing. (Learn more about the pros and cons and process of genetic testing here.)