What happens during genetic testing?

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With genetic testing you can find out if you have an increased risk for certain diseases or conditions based on your genetic makeup. It may be recommended if you have a family history of a particular condition or if you plan to have children.

A laboratory analyzes a sample of blood, saliva, or tissue taken from your body during genetic testing. You can use the results of your test to make informed decisions about your health and your family’s health.

What Is Genetic Testing?

DNA is the blueprint for your body, and genes are sections of that blueprint. Every person has two copies of each gene, one from each parent. Genes work together to keep your body functioning properly. Other genes may have mutations, or changes, which can lead to health problems. Most mutations are passed down from parent to child. There are times, however, when mutations occur spontaneously. You can find out if you have certain genes that may cause health problems through genetic testing.

Several genetic tests are designed to detect changes in genes associated with health problems. Some tests examine DNA itself to determine if it contains changes that may be linked to health problems. A genetic test can reveal if you are at risk of developing certain diseases or conditions. You can also use them to guide your health management decisions. You may decide to have more frequent cancer screenings if you have a mutation that increases your cancer risk. Alternatively, a genetic test might be helpful if you’re planning to have children to find out whether your offspring will inherit a genetic disorder.

There are several risks to consider before having genetic testing:

  • False positives: If a test says you have a gene mutation, but you don’t, it can cause unnecessary stress and worry.
  • False negatives: If a test suggests you don’t have a gene mutation, but you do, you may not be able to get the treatment or care you need.
  • Emotional risks: If a genetic test results in bad news, it can be difficult to cope. You may be concerned about your own or your family’s health. You may also feel guilty although you didn’t cause the mutation.
  • Privacy and discrimination: The genetic information you provide is private. It is possible, however, that insurance companies or employers may gain access to this information. If they use it, they may decide whether to cover you or hire you.

While the Genetic Information Nondiscrimination Act (GINA) protects people from discrimination based on their genetic information, it does not cover life insurance, long-term care insurance, and disability insurance. You may need to give a blood or saliva sample for some tests. A small piece of skin or tissue may be taken from your body for other tests. Biopsies are procedures that remove a small sample of tissue for testing. A laboratory tests the sample after it is taken.

Results usually take a few weeks to appear. Depending on the results of a genetic test can be positive, negative, or inconclusive. First, positive results indicate that you have a gene mutation associated with a disease or condition. It does not mean that you will get the disease. However, it does increase your risk of developing it. Next, negative results indicate that you do not have the gene mutation. There is no guarantee that you won’t get the disease in the future.

Other factors can affect your risks, such as your lifestyle and family history. Then, an inconclusive result means the test was not able to detect a gene mutation or it is unclear if you have one. You may need to have another test if this happens. Some people choose to undergo genetic testing even if they do not have any symptoms of a disease. This type of testing is called predictive testing. You can use it to find out if you have a gene mutation that causes a disease before symptoms appear. You may want to consider more frequent cancer screenings or other preventive measures if you have a positive result. Mammograms and breast MRIs may be recommended if you have the BRCA1 gene mutation, which is linked to breast cancer. Genetic testing is a personal decision that depends on many factors, such as your health history and your feelings about the results. Contact us at 205-352-9141 if you are considering genetic testing.

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