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What is genetic testing?

Genetic testing is a process of studying your genes, chromosomes and/or proteins in a laboratory to look for markers that may indicate you have a disease, you may be more likely to develop a disease, or you could possibly pass on a disease to your children. More than 1,000 genetic tests are currently in use, according to the National Institutes of Health, and more are in development.

There are several different reasons that genetic tests might be performed.
  • To diagnose the cause of your symptoms. Certain genetic tests can give you a definitive diagnosis of a disease that is making you ill, giving you the information you need to create a treatment and/or disease management plan.
  • To give you a sense of how likely you are to develop certain diseases. For example, certain mutations on genes known as BRCA1 and BRCA2 may identify a woman as being at increased risk for breast or ovarian cancer. She can then use that information to consider preventive surgery, more frequent screening, or certain lifestyle changes to reduce her risk.
  • To determine if you are a carrier of a gene linked to a disease that runs in your family.
  • To determine if a fetus has a certain disease (prenatal testing).
  • To test newborns to determine if they have certain diseases known to affect health and development.
  • To determine the best treatment option for you (pharmacogenomic testing). Certain genetic tests give information about how individuals process medication.
  • For research purposes. Genetic testing may be performed to expand medical researchers' understanding of the human body, health, and disease.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.