GENETIC TEST DEFINITIONA genetic test is an examination that involves laboratory analysis of your DNA (the biological database that bears the instructions for your body's functions). A genetic test can show alterations or changes in your genes that may cause future disease or illness.
GENETIC TEST PURPOSEA genetic test may be conducted for the sake of diagnostic testing (testing for disease symptoms), presymptomatic and predictive testing (testing because you have a family history for a genetic condition), carrier testing, pharmacogenetics (testing for what medication or dosage will best help treat your genetic condition), prenatal testing, newborn screening, or preimplantation testing.
GENETIC TEST RISKSThe risks depend on what kind of samples are going to be taken from you in order to perform the genetic test. For instance, a cheek swab carries little to no risk, a blood sample can lead to a small chance of infection or hemorrhaging, and a chorionic villus sampling or amniocentesis involves fetal risks.
GENETIC TEST PREPARATION REQUIREDYou need to provide your doctor with your family's medical history as well as your personal medical history. You may need to discuss your decision to get a genetic test with your family. You'll also need to check with your medical insurance if they'll cover this procedure.
GENETIC TEST PROCEDUREA nurse, a medical geneticist, or your doctor may administer, order, or select a genetic test. You may provide a blood sample, get a cheek swab, offer a sample of prenatal amniotic fluid (amniocentesis), or give a tissue sample from the placenta (chorionic villus sampling).
GENETIC TEST COMPLICATIONSPossible (unlikely) complications for getting blood samples include hemorrhaging, fainting, hematoma, and infection. Miscarriage, infection, and amniotic fluid leakage are possible complications from chorionic villus sampling. Amniocentesis comes with the risks of fetal injury, amniotic fluid embolism, and preterm labor and delivery.
GENETIC TEST SIDE EFFECTSThere are no side effects to cheek swabs. Tenderness of the penetration site is to be expected for blood samples and amniocentesis. The immediate side effects of amniocentesis and chorionic villus sampling include bleeding, spotting, and uterine cramping.
GENETIC TEST RESULTSTalking with your doctor or a genetic counselor about the results of your genetic test is an important part of the examination. The period of time it takes before you can get your results will depend on the type of test and the lab itself. Positive results entail treatment discussions and preventive measures. Negative results are good news, but won't guarantee any future alterations.