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What are the main types of genetic testing?

There are six main types of genetic testing:

  • Carrier identification camera.gif determines whether people who have a family history of a specific disease or who are in a group that has an increased chance for that disease are likely to pass on that disease to their children. Information obtained from this type of testing can help guide a couple as they make decisions about pregnancy.
  • Prenatal testing determines whether a fetus has a disorder, such as Down syndrome. Information gained from this type of testing can help guide decisions about how to manage a pregnancy, including the decision about whether to end the pregnancy.
  • Newborn screening checks for various metabolic diseases, such as phenylketonuria (PKU). Information obtained from newborn screening can help guide medical treatment to ensure the best possible outcome for the baby.
  • Late-onset disease testing determines whether you carry a genetic change that increases your risk for developing a disease, such as breast cancer or Huntington's disease, later in life. This might be of interest if you have a relative who has the disease. Information from this type of testing can help you make decisions about preventing or managing the disease.
  • Genetic identification (DNA fingerprinting) can be used to determine paternity, help solve crimes, and identify a body.
  • Compatibility testing looks at genetic markers to see if an organ for transplant is suitable for a person who needs it.

What are the risks of genetic testing?

Information from genetic testing can affect your life and the lives of your family members. The issues involved include:

  • Psychological. The emotions you may experience if you learn that you have a greater chance of having or passing on a serious disease can cause you to feel anxious or depressed. This may also affect your relationship with your partner or other family members. Genetic counseling is recommended prior to genetic testing.
  • Medical. A person who tests positive for a disease-specific gene change may decide to use preventive or treatment options to reduce the impact or severity of the disease. Although many treatment options have been shown to be effective, others may be potentially dangerous or of unproven value.
  • Privacy. Because genetic testing is expensive, few people are able to afford it without help from their insurance companies. Many people worry that genetic information released to insurance companies may affect future employment options or insurance availability. The discovery of a genetic disease that is not causing symptoms now (such as breast cancer or Huntington's disease) should not affect your future ability to gain employment or health insurance coverage. A law in the United States, called the Genetic Information Nondiscrimination Act of 2008 (GINA), protects people who have DNA differences that may affect their health. This law does not cover life insurance, disability insurance, or long-term care insurance.
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WebMD Medical Reference from Healthwise

Last Updated: March 12, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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