What Does Genetic Testing Reveal?

Genetic testing is a type of medical examination that identifies changes in genes, chromosomes, or proteins. It can be used to confirm or rule out a potential genetic condition, or to determine the chances of a person developing or transmitting a genetic disorder.

Genetic testing

looks for mutations or variants in DNA, and is useful in many areas of medicine. It is done with a blood or saliva sample, and the results are usually ready within a few weeks. For example, genetic testing can provide a diagnosis of a genetic condition such as fragile X chromosome, or information about the risk of developing cancer.

Because we share DNA with our family members, if you are found to have a genetic change, your family members may have the same change. Genetic counseling before and after genetic testing can help ensure that you are the right person in your family to have a genetic test, that you have the right genetic test, and that you understand the results. Large-scale genetic testing can yield results unrelated to the reason the test was requested in the first place (secondary findings). This is usually regulated by law; in Germany, the Genetic Diagnosis Act (Gendiagnokgesetz) covers this type of testing. However, this is only allowed for the specific purpose of detecting genetic changes that may affect the child's health before or after birth. Conversely, a “normal” (negative) test result cannot provide absolute certainty that a disease will not occur.

If you have a family history of a genetic condition, have symptoms of a genetic condition, or are interested in knowing your chances of having a genetic condition, talk to your doctor to find out if genetic testing is right for you. Analytical validity analyzes whether a DNA test can accurately detect if a specific gene has a mutation or not. You will need to disclose a health condition that has been diagnosed through genetic testing, but you usually won't have to disclose the results of predictive genetic testing. Under the Genetic Diagnosis Act, this type of counseling can only be done by doctors who specialize in human genetics or who have additional qualifications in this area. Clinical genetic testing is different from direct-to-consumer genetic testing (DTC), which can provide information about medical and non-medical characteristics. The laboratory reports test results in writing to the person's doctor or genetic counselor, or directly to the patient if requested.

The information you must share with an insurance company is governed by a voluntary government code called the Genetic Testing and Insurance Code.