What is Genetic Testing?

Genetic testing is a blood test that can provide specific information for you and your health care provider about your health or health-related risks. In many ways, genetic testing is similar to routine tests such as a cholesterol screening. However, genetic testing is unique because it looks at the DNA and genes that make each individual unique and different from anyone else in the world.

  • A genetic test looks at your DNA. DNA makes up our genes which serve as the instructions, or recipe, for how our bodies grow, develop, and work. We carry around this set of instructions in every organ and every cell of our body. There are around 20,000 genes in each of our cells.
  • Our genes are inherited, or passed down, from our parents who, in turn, got half their genes from their parents. If you have children, each of your children inherited half their genes from you and half from their other parent. Each person who is related by blood shares some genes in common.
  • Our genes change (also knows as mutations). These changes are common and usually not harmful at all. Once in a while, changes occur in our genes that modify the way that gene functions, or keep the gene from working at all. The result is sometimes an illness or disease.
  • A genetic test identifies gene errors. Genetic testing looks directly at a certain gene or several genes and tries to find if any mistakes have occurred. Finding a genetic error that we think is leading to a disease can provide valuable information for you and other family members.
  • Genetic testing can provide important information for diagnosing, treating and preventing illness. However, there are limitations. For example, if you're a healthy person, finding a disease-causing mutation in a gene does not always mean that you are certain to develop the disease. On the other hand, in some situations, not finding a mutation doesn’t guarantee that you won't develop a disease.

Talking to your doctor or genetic counselor about what you will do with your test results is an important step in the process of considering genetic testing. Your doctor or genetic counselor will also discuss the type of genetic testing that is best for you.

© 2018 Intermountain Healthcare. All rights reserved. The content presented here is for your information only. It is not a substitute for professional medical advice, and it should not be used to diagnose or treat a health problem or disease. Please consult your healthcare provider if you have any questions or concerns.