What are genes and why do they matter?

Health conditions can occur for a number of reasons—due to illness, injury, or living circumstances. Some conditions can also be caused by changes in your genes.

Your entire set of genetic information is called your genome. You inherit approximately half of your genome from your mother and half from your father.

Your genome is made up of a genetic material called DNA (deoxyribonucleic acid), which is found in almost every cell in your body. Your DNA is like an instruction manual that provides the directions for how your body is built and how it reacts with the environment around it. Your DNA is organized into smaller segments called genes. Each gene provides the instructions for making a specific protein. These proteins perform important jobs in your body, like building cells and protecting the body from viruses.

Unless you have an identical twin, your genes will be slightly different from everyone else in the world. These differences in your genes are called variants, because there is variation (or change) at a particular location in the gene. Variants can affect your physical characteristics, as well as how your body repairs damage, processes food and medications, and much, much more.

While most gene variants are harmless, some can cause medical conditions. This is why it is a good idea to have a genetic test called a carrier screen if you are pregnant or planning for pregnancy. A carrier screen can help you understand your risk of passing on certain variants to your children. Learn more about our carrier screen for more than 280 genetic conditions.

Learn More

For more information about genetics, inherited diseases, and genetic testing, you can also visit these sites:
Genetics Home Reference Created by the US National Library of Medicine, this website offers easy-to-understand information about genetics and inherited conditions.
Genetic Testing Fact SheetThis resource from the National Institutes of Health provides an helpful overview of genetic testing, including its role in family planning and personalized medicine.