Neurology Genetic Testing

Genetic Testing

Your body is made up of millions of cells, and each cell contains genes. Genes are responsible for your hair color, eye color, height, and weight, as well as your susceptibility to disease.

Genetic variants are present in all people, and certain factors determine how they impact your body and your health. Some variants are passed down to you from family members (these are hereditary variants), while others are acquired throughout your lifetime. Although most genetic variants are harmless, they can sometimes lead to disease.

About Genetic Testing

Genetic testing is a process used to identify genetic variants. The results of a genetic test can confirm a suspected genetic condition, or help determine a person’s chance of developing or passing on a genetic disorder. Understanding these results also helps researchers develop therapies to better treat diseases, including movement disorders.

The decision to have genetic testing can be difficult, but there are benefits. Using your DNA, genetic testing can help you make informed decisions about your health and may provide a sense of relief from uncertainty.

Here are some examples of genetic tests available:

• Diagnostic testing: If you are exhibiting certain symptoms, genetic testing can confirm a diagnosis.
• Predictive testing: This reveals if you are at risk for developing a certain condition.
• Carrier testing: If you have a family history of a genetic disorder, you and your partner may opt to get testing before having children to detect whether your offspring might be at risk.
• Pre-implantation testing: Genetic testing can help individuals undergoing in vitro fertilization to help ensure the transferred embryos do not have abnormalities.
• Prenatal testing: During pregnancy, genetic testing can detect known abnormalities in your baby’s genes.
• Newborn screening: Upon birth, newborns are tested for genetic abnormalities for specific conditions.
• Pharmacogenetics: If you currently have a health condition, this may help provide better insight as to the most effective medication dosage.

You may want to consider genetic testing if you have:

• Early-onset disease or unusual symptoms: Testing may confirm a diagnosis.
• Family members with a disease: A genetic test may help determine your risk.
• Been diagnosed with a disease: Testing can help determine your risk of passing it down to your children.

Understanding Your Results

The amount of time it takes to receive your genetic test results depends on the type of test. Your genetic counselor will discuss these expectations at your appointment.

If your genetic test result is positive, that means the genetic variant that was being tested for was detected. A positive test does not necessarily mean you’ll develop that disorder, but you are at risk. Your genetic counselor will determine if additional testing is necessary, answer your questions, and review options for family planning and research participation.

A negative result means that no variants were found in any genes tested. Although this can be reassuring, it’s not a 100 percent guarantee that you don’t have the disorder. Your genetic counselor can provide additional information about the meaning of a negative result.

In some cases, genetic testing does not provide helpful information about the gene in question. Additional testing may be necessary.