What Can Genetic Testing Reveal About Your Health?

A DNA test (genetic test) is a medical examination that can identify mutations in genes, chromosomes, or proteins. It can detect conditions such as Down syndrome, Huntington's disease, cystic fibrosis, sickle cell anemia, phenylketonuria, colon (colorectal) cancer, and breast cancer.

Genetic testing

involves analyzing DNA, the chemical database that contains instructions on the body's functions. It looks for changes, sometimes called mutations or variants, in the DNA that can cause a disease or illness.

Genetic testing is useful in many areas of medicine and can alter the medical care that you or your family member receives. For instance, it can provide a diagnosis of a genetic condition, such as the fragile X chromosome, or information about the risk of developing cancer. There are various types of genetic testing and they are done with a blood or saliva sample. The results are usually ready within a few weeks. Since 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 make sure 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. One of humanity's most common issues is obesity. People with a BMI equal to or greater than 30 are identified as obese. Although it is currently believed that physical inactivity is one of its causes, hereditary genes are still one of the important factors that trigger obesity in an individual. Talking to your doctor, a medical geneticist, or a genetic counselor about what you are going to do with the results is an important step in the genetic testing process.

Newborn screening tests are used right after birth to identify genetic disorders that can be treated early in life. A negative result means that the test didn't detect a mutated gene, which can be reassuring, but it's not a 100 percent guarantee that you don't have the disorder. Regardless of genetic test results, talk to your doctor, medical geneticist, or genetic counselor about any questions or concerns you may have. However, it should be noted that the presence of a genetic marker does not necessarily mean that you will get sick or have the disease. Genetic counseling and testing may be recommended for people who have had certain types of cancer or certain patterns of cancer in their family.

Genetic testing panels are often grouped into categories based on different types of medical problems. Then talk to your doctor or a genetic counselor about your personal and family medical history to better understand your risk. While genetic testing can provide important information for diagnosing, treating and preventing diseases, there are limitations. If the genetic test result is positive, it means that the genetic change it was being tested for was detected. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition. Among all known cases, 30% of people were diagnosed with a genetic reason that caused loss of vision in one or both eyes.

Genetic testing at home should not be done in place of cancer screening or genetic counseling that may be recommended by a medical professional based on an individual's risk of developing cancer.