At-home genetic tests: what you should know

A genetic test is a medical test that looks at a person’s genetic material. These tests can help a person know if she has genetic diseases or is at increased risk for some medical problems.

Women who are pregnant or who are thinking about becoming pregnant often first learn about genetic tests from their healthcare provider. Some genetic tests look for changes in genes that are related to an increased risk of birth defects.

In recent years, companies have begun advertising and offering genetic tests directly to consumers, usually on Web sites. This is called at-home or direct-to-consumer genetic testing.

These tests may provide some information about the health risks a woman may face over her lifetime. They can also tell a woman if she is the carrier of certain genetic diseases that can be passed on to a child. But at this time, these tests provide little useful information for women or their health care providers.

How Direct-to-Consumer Genetic Testing Works
After placing an order and paying a fee, the customer receives a test kit in the mail. Genetic tests can be done on saliva or cheek cells. To provide the material needed for the test, the customer

• Brushes the inside of her cheek with a swab or
• Spits into a small cup

She then mails the sample back to the company. The company performs the test itself or has an outside lab do so. The customer gets the results in a few weeks.

The customer can do all of this without ever talking to her health provider or insurance company.

Some companies offer genetic counseling. Some charge extra for this service. Genetic counseling helps people understand:

• If they or their children are at risk of a particular disease, how serious the disease is, and if treatment is available
• The meaning of a genetic test and how if affects her life and family

What Information Do At-Home Genetics Tests Provide?
At-home genetic tests can give some information about a person’s chances of getting a disease, such as cancer, diabetes or Alzheimer’s. Others help people understand their ancestry.

At-home genetic tests are not diagnostic tests. Most often, they can’t tell a person for certain if she has a disease. They can tell her if she is at increased risk of disease. Because these tests cannot test the fetus directly, the results do not tell a pregnant woman if her baby has a birth defect.

We need more research to help us learn how useful these kinds of genetic tests really are. For example, does someone with a change in their genes, compared to another person who does not have the change, actually develop the disease that is being tested for?

Health professionals worry about the stress that at-home genetic tests may cause, especially when people have not talked to their health professional and may misunderstand or misinterpret the results. When it comes to your health and your baby’s health, your health care provider is the best person to help you decide what genetic test, if any, is right for you and your baby.

The American College of Obstetricians and Gynecologists discourages the use of at-home genetic testing.

Privacy Concerns
Some people like the idea of at-home genetic tests because they do not want their employer or insurance company to find out the test results. But a new law does not allow health insurers or employers to discriminate based on the results of a genetic test.

Even with the new law, people still need to protect their privacy. If you decide to take an at-home genetic test, ask the company who sells the test these questions:

• How will my information be used?
• Will the company share my genetic information?
• What happens to my DNA after the company has analyzed it? (DNA is the genetic material that genetic tests look at.)

What Do Direct-to-Consumer Genetic Tests Cost? Do Insurance Companies Pay for Them?
At-home genetic tests can cost a few hundred to a few thousand dollars. Health insurance companies do not pay for genetic tests unless a health professional asks for the tests.

How Can My Healthcare Provider and I Use the Results of an At-Home Genetic Test?
A medical professional is the best person to help you understand the results of genetic tests. But at this time, at-home genetic tests provide little useful information for you or your provider.

If a test shows that you are at increased risk of a disease, this often doesn’t change how your health care provider advises or treats you. For instance, most providers tell all of us to avoid habits that put us at risk for heart disease and cancer. They tell us to eat healthy foods, to exercise and not to smoke. The results of an at-home genetic test would not change that advice.

Also, if a test shows that you are at lower risk for a disease than other people, you might still get the disease. In any case, you should still practice healthy habits.

Genetic Tests and Pregnancy
Health providers sometimes recommend that a woman have certain genetic tests in a medical office or clinic before or during pregnancy. Here are examples of some of those tests:

Before Pregnancy

• Cystic fibrosis carrier screening (cystic fibrosis is a disease that affects breathing and digestion)
• Screening for other genetic diseases such as Tay-Sachs and sickle cell anemia

During Pregnancy

• Maternal blood screening (looks for a higher-than-average risk of certain birth defects) 
• Chorionic villus sampling (looks for Down syndrome and other genetic conditions)
• Amniocentesis (looks for Down syndrome, other genetic conditions and certain malformations)

Courtesy of the March of Dimes