What is genetic testing?

Genetic testing is the process of using medical tests to look for changes (mutations) in a person’s genes or chromosomes. Hundreds of different genetic tests are used today, and more are being developed.

Genetic testing for diseases that can be inherited

Genetic testing can be used in different situations. The type of testing most often used to check for cancer risk is called predictive gene testing. It’s used to look for gene mutations that might put a person at risk of getting a disease. It’s usually done in families with a history that suggests there’s a disease that may be inherited. An example is testing for changes in the BRCA1 and BRCA2 genes (known breast cancer genes) in a woman whose mother and sister had breast cancer.

Genetic testing is also used for other reasons:

  • Carrier testing can be used to help couples learn if they carry a gene mutation for a disorder they might pass on to a child, such as cystic fibrosis, sickle-cell anemia, or Tay-Sachs disease.
  • Prenatal screening can be used to diagnose some conditions in babies before they are even born, such as Down syndrome.
  • Newborn screening is the most widespread form of genetic testing. Newborns are screened for a number of inherited conditions such as phenylketonuria (PKU), cystic fibrosis, sickle cell disease, and others. The tests required vary from state to state.

Genetic testing for cancer risk

Cancer-related genetic tests are most commonly done as predictive genetic tests. They may be used:

  • To see if a person has a certain gene mutation known to increase the risk for a certain cancer (or cancers)
  • To confirm a suspected gene mutation in a person or family

All of these forms of genetic testing, including predictive gene testing, look for gene changes that are passed from one generation to the next and are found in every cell in the body. Except for the newborn screening tests, they are used mainly for people with certain types of disease that seem to run in their families.

Read the full article here: http://www.cancer.org/cancer/cancercauses/geneticsandcancer/genetictesting/genetic-testing-what-is

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