Genes are made up of chemical building blocks called DNA (deoxyribonucleic acid). We inherit our genes from our parents. Genes contain instructions for all of our traits – such as hair color, eye color, aspects of our health – many things that make us who we are. Although we can’t see them, genes are in the millions of cells throughout our bodies. Genes are found in structures called chromosomes, which are also in our cells.
Since genes have instructions for our health, small changes in the way our DNA is spelled in a gene – like a typo – can impact our health. These small changes are called DNA variants.
One type of genetic testing is called DNA sequencing, which helps to identify DNA variants. Some DNA variants cause traits in us, like the color of our eyes. Other DNA variants can impact our health, such as DNA variants that cause us to have an increased risk of a particular disease.
Genetic testing looks for DNA variants to figure out a genetic cause or risk for health problems. Knowing if your health problems have a genetic cause, as well as understanding your health risks, may help you and your doctor better understand the prognosis, ensure the appropriate treatments are in place, and learn about potential family planning implication.