Genetic Testing: What You Should Know


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What are genes and how are they related to disease?

Genes are segments of DNA. Genes are found in chromosomes and they control growth and help you stay healthy. Sometimes, when genes are abnormal or damaged, they may not work properly, which may lead to disease. Some genetic abnormalities, or “gene mutations,” may run in families. Some just happen by chance. Sometimes one mutation can cause a person to have a disease, but most diseases are caused by a combination of genetic and environmental factors.

What is genetic testing?

Genetic testing may help to show if you’ve inherited a tendency to get certain diseases. A sample of blood or skin is usually needed for genetic testing.

What does a positive test result mean?

A positive test result means that you have the mutation you’ve been tested for. If you have a positive test result, it means you may be more likely to get a particular disease than most people, but it doesn’t mean you will definitely get the disease.

What does a negative test result mean?

A negative test result means that you don’t have that particular mutation. This may mean that the disease doesn’t run in your family. A negative result doesn’t mean you won’t get the disease. It only means that you’re not more likely to get the disease than other people are.

Who should be tested?

By looking at your family history, your doctor can tell if you’re likely to have a gene mutation that may contribute to disease. A disease might run in your family if a blood relative developed the disease at a young age or if several family members have the disease. People from certain ethnic groups may also be more likely to get certain diseases. If one of your family members already has the disease, that person should be tested first. This helps show which genes, if any, are associated with the disease.

How do I decide if I should get tested?

If you think you may be at high risk for an inherited disease, talk to your family doctor. Your doctor will ask you questions about your health and the health of your blood relatives. This information will help your doctor find out what your risks might be. The information your doctor gives you about your risks can help you decide whether you want to be tested.

There are 2 important questions you should think about before you go through genetic testing:

1. What can I gain by being tested?

Here are some reasons you might want genetic testing:

  • You might not be so worried about getting a disease.
  • You might be able to change your lifestyle to reduce your risk of getting a disease.
  • Your doctor will know how often to check you to see if a disease is developing.
  • You might be able to take medicine to prevent the disease.

2. Are there any negative effects of testing?

Here are some reasons you might not want to know that you could be at risk for a certain disease:

  • Testing may make you more worried about getting sick.
  • Testing may give you stress or make you feel guilty .
  • Testing could lead to problems with employers or insurance companies.

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Written by familydoctor.org editorial staff

Reviewed/Updated: 07/13
Created: 09/99

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