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 health care 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 does direct-to-consumer genetic testing work?

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.

Are there any 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.)

Some people don't want companies to do research on their DNA or sell it to biotech companies even if their name is removed from the sample.

Do insurance companies pay for direct-to-consumer genetic tests? 

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 you and your health care provider 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.

Which genetic tests can you get during 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

During pregnancy

  • Prenatal tests, like first-trimester screening and maternal blood screening (test your blood to see if your baby is at risk for 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)

Women do not need at-home genetic testing to help them stay healthy and to have a healthy pregnancy. Working with their health care provider, they can take many positive steps on their own.

For more information

Centers for Disease Control and Prevention (CDC)
CDC Show Your Love Campaign

Last reviewed June 2009

See also: Your family health history

Most common questions

Genetic counseling

How do you know you're pregnant?

Knowing the signs of pregnancy can help you tell if you’re pregnant. Here are some signs that you might be pregnant:

If you have any of these pregnancy signs and think you may be pregnant, go to your health care provider. The sooner you know you're pregnant, the sooner you can begin prenatal checkups and start taking good care of yourself and your growing baby.

How soon can I take a pregnancy test?

Home pregnancy tests are usually more accurate when your period is late - about 2 weeks after conception (getting pregnant). If they're done too early, they may say that you're not pregnant when you really are. This is called a false negative. That's why it’s best to take a home pregnancy test when your period is late. Carefully follow the test's instructions. Tests done at a lab or at your health care provider's office are more accurate.

I’m late for my period but my pregnancy test is negative. Why?

If you've taken a home pregnancy test and it's negative (shows that you're not pregnant), you may want to take a blood pregnancy test at your health care provider's office. A blood pregnancy test is more sensitive than a home pregnancy test that checks your urine. The blood pregnancy test can tell a pregnancy very early on. 

Pregnancy tests work by looking for the hormone called human chorionic gonadotropin (hCG), a hormone that a woman's body makes during pregnancy. If both a blood and urine test come back negative and you still have a missed period, talk with your health care provider. Things like stress, eating habits, illness or infection can cause changes in your menstrual cycle.

I’ve been trying to get pregnant for 3 months. What’s wrong?

Pregnancy may not occur right away, so there is no need to worry. For most couples, it may take up to 1 year to conceive. If you’ve been trying to get pregnant for more than a year, or 6 months if you're over 35, it may be time to talk with your health care provider. You and your partner can get tests to find out why you are not getting pregnant

Is it possible to ovulate without having a period?

Ovulation is when a woman's ovary releases an egg. This egg travels down into the fallopian tube. If you had sex without using birth control, sperm will swim up to meet your egg so that your egg can be fertilized. If no fertilization occurs, and after about two weeks, your body sheds the unfertilized egg, the uterine lining and blood and tissue that would have nurtured a fertilized egg. This is known as menstruation (your period).

You ovulate before you menstruate. But if you don't get your period, it doesn't necessarily mean that you haven't ovulated. For example, some women have irregular cycles. Even if you're very regular, once in a while your cycle may change. Therefore, it's hard to pinpoint exactly when you ovulate. If you don't get your period, you may want to take a pregnancy test.

What is the best time to get pregnant?

The best time to get pregnant is a few days before ovulation or the day of ovulation. This is because a man's sperm can live up to 72 hours after intercourse and a woman's egg is fertile for 12 to 24 hours after its release. If your periods are regular, use an ovulation calculator. If your periods are irregular, use one of the following. Talk to your health care provider to learn more about the most effective way to use these.

  • Purchase a basal body thermometer. Use it to take your temperature before you get out of bed every day. Your temperature goes up by 1 degree when you ovulate.
  • Check the mucus in your vagina. It may become thinner, more slippery, clearer and more plentiful just before ovulation.
  • Purchase an ovulation prediction kit. Use it to test your urine for a substance called luteinizing hormone (LH). LH increases each month during ovulation.

Have intercourse as close as possible to ovulation to improve your chance of getting pregnant.

©2013 March of Dimes Foundation. The March of Dimes is a non-profit organization recognized as tax-exempt under Internal Revenue Code section 501(c)(3).