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Genetic Testing

Genetic testing searches for changes, or variants, in your genes that may cause a medical problem.

Genetic testing can sometimes help you learn more about your health. There are many types of genetic tests.

These tests may help your family or your doctor make healthcare choices in different situations:

  • Carrier screening checks if a person is a carrier for a genetic disease. Most carriers do not show any signs or symptoms of the disease they are a carrier for.
  • Diagnostic testing can check for specific, known genetic conditions.
  • Newborn screening checks for certain treatable conditions at birth.
  • Pharmacogenomic testing can help doctors figure out what medicine to give you and how much medicine to give.
  • Predictive testing can determine if you are at risk for developing a genetic condition later in life.
  • Pregnancy related testing includes all of the possible testing that can be done during a pregnancy to check for any increased risk for genetic or other health conditions.


Before having a genetic test, think about talking to a genetic counselor. Genetic counselors can tell you and your family about important factors to consider when thinking about genetic testing. They also can explain how the particular test you are having may affect your life depending on the results.

Testing Procedure

To do a genetic test, you need a sample of blood, saliva, hair, skin, amniotic fluid, or other tissue. Different tests use different types of samples. Your doctor will decide which sample will be used. Scientists use the sample to check for specific genetic changes. The tests might check your DNA, RNA, chromosomes, proteins or metabolites for these changes. In some cases, you may need several genetic tests. For example, some genetic conditions are caused by more than one genetic change.

Test Results

When you receive your test results, they may be hard to understand. A genetic specialist can help explain your results to you and your doctor and help you think about next steps. For example, if you have a genetic condition, you may want to start seeing a specialist to help manage your condition.

Possible Benefits of Genetic Testing

You may benefit from genetic testing whether the results are positive or negative for a gene change, or gene variant. For some people knowing the results either way may provide a sense of relief. Whatever the results, you and your family can better prepare for the road ahead.

Possible Risks of Genetic Testing

Genetic testing usually has a very low risk of affecting your physical health. But genetic testing can sometimes affect your emotional or financial well-being. Some people may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family. Each person's experiences are unique, so it is difficult to guess what your experience will be like based on someone else. 

Discrimination by others based on your genetic test results is also a possible risk. Congress enacted the Genetic Information Nondiscrimination Act (GINA) in 2008 to protect people from genetic discrimination. This law added to the protections many states already had in place. Today, it is illegal for you to be treated differently by your employer or health insurance provider because of a genetic mutation.

GINA does not prevent long-term care, disability or life insurance providers from using genetic test results to make decisions about your coverage. Refer to GINA Help or the Genetics Home Reference for additional information on genetic discrimination.

The Cost of Testing

A genetic test may cost anywhere from $100 to more than $4,000, depending on the test. Your health insurance plan may cover all or part of the cost of genetic testing. Check with your health insurance provider to see if coverage is available.

Reimbursement for Genetic Testing

Genetic testing may be necessary for many reasons, including for preventive, reproductive, or life planning measures. You may be reluctant to have these tests done because your insurance provider might not cover the costs and you don’t want to pay out-of-pocket. Ultimately, genetic testing can be very important in figuring out a health condition, and it’s important for you to do everything that you can to maximize your health.

Check with your provider to see how this provision may impact coverage of your genetic tests. Even though all necessary and actionable genetic tests might not be covered by every plan, you can learn about what your plan covers or how you can go about the reimbursement process.


Here are some facts about current coverage and reimbursement policies:

  • Coverage decision-making is the process that health insurance plans and purchasers go through to figure out which services will be covered and in which situations the providers (such as doctors or genetic counselors) will be reimbursed for the services.
  • The coverage decision-making process also happens when someone submits a claim for reimbursement or a request for preauthorization for the services is submitted.
  • Public insurance plans vary from plan to plan on what they cover, however most cover the following:
  • Genetic testing for chromosomal abnormalities
  • Prenatal and neonatal diagnosis
  • In some cases, preimplantation genetic diagnosis (e.g., advanced maternal age, suspected fetal anomaly, or history of miscarriage or developmental problems in prior pregnancies)
  • Some plans have specific rules for certain conditions such as:
    • Hereditary cancer testing
    • Cystic fibrosis
    • Tay-Sachs disease
    • Hereditary hemochromatosis
  • Evidence-based coverage of genetic tests is when the health insurance plan looks at the test’s accuracy and if there is a treatment in order to determine if it will be cost effective to cover the genetic test.


The most important thing that you can do is to talk to your health insurance company about which tests and counseling they cover or will reimburse, and under what circumstances they will cover these services. Your provider also may be able to help guide you through insurance coverage and reimbursement process.

Learn more

Just The Facts

Family members share genes, habits, lifestyles, and surroundings.

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Do you have the same eye and hair color as many of your family members?

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Genetics helps explain what makes you unique, why family members look alike, and why some diseases run in families.


The National Genetics Education and Family Support Center (Family Center) provides tools and resources to support family engagement and genetic services.

Contact info

4301 Connecticut Ave NW Suite 404 Washington, DC 20008-2369

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