Understanding the Role of Genetic Health Testing

Learn about the benefits and the limitations of genetic health testing
Genetic Testing
National Cancer Institute

Every cell in your body contains a set of instructions called genes, which help determine how your body works and your individual physical characteristics. You inherit a unique combination of genes from your parents. These genes, together with many other factors, such as your environment and your lifestyle choices, make us unique individuals. Genes influence your height, hair color, aspects of your personality, risk for developing a variety of diseases, and how you will respond to certain medications.

An inherited trait is one that is genetically determined. Most traits are not strictly determined by genes, but rather are influenced by both genes and environment.

Over the past few decades, our understanding of how genes influence our health has increased significantly. Our ability to determine how an individual’s genes may impact a person’s health is especially useful, because that information can be used to help guide disease prevention and treatment strategies.

Genetic Testing

Genetic tests determine variations in genes. They may be used to help guide medical decisions, identify individuals, or provide information about how your body works. Genetic test results may encourage you to be proactive about lifestyle changes that may help manage health risks.

A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene.

Your doctor may recommend a genetic health test for you if certain health conditions run in your family or if you or a family member has been diagnosed with a condition known to have a genetic marker that may impact treatment decisions. Consumer genetic health testing is available if you are interested in learning about your comparative risk of disease or how you may respond to specific medicines. The test results may encourage you to be proactive about lifestyle changes that may help you manage health risks. For example, if you have an increased genetic risk of developing celiac disease, you might change your diet and exercise habits and ask your healthcare provider to help you develop a plan to watch for early symptoms of disease.

The Role of Confirmatory Testing

Some genetic health-related information is “medically actionable,” meaning medical interventions are available that could reduce your risk of getting a disease or that using this information could influence treatment decisions and how the disease advances. In this case, you should talk to your doctor about your results. Before beginning any strategy, your doctor may want you to test again or confirm your results through another method.

If a test reveals you have an equal or lower risk of developing a specific illness than the general population, you should still receive recommended health screenings such as mammograms and blood tests. Your environment and other lifestyle factors also affect your health. Regular checkups and a healthy lifestyle are very important, regardless of your genetic risk factors. As with any health-related decision, you should work with your healthcare provider to develop a health management strategy that suits your needs.

More Information

For more information about the risks and benefits of genetic health testing, please see the Personalized Medicine Coalition's Consumer’s Guide to Genetic Health Testing.

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