What’s the Difference Between Genetic Carrier Screening and Ancestry DNA Tests?

When people hear the term “genetic testing,” they often think of Direct-To-Consumer (DTC) genetic testing, which they can order themselves on sites such as ancestry.com or 23andme.com. DTC genetic testing can give you information about your health, ethnic background, and even track down distant relatives. These tests can give a person information about potential susceptibilities or sensitivities, but when interpreted without information about that person’s health history, lifestyle, and family history, these results can be very limited. Information from DTC genetic tests are only a small piece of the puzzle.

Genetic carrier screening is different. Carrier screening looks at specific genes that are known to be associated with specific disease. They test to see if you are a carrier for a genetic condition that can be passed down to future generations. This type of testing cannot be ordered without a healthcare provider. Generally, the diseases tested for are recessive conditions, meaning a carrier of the disease does not show any symptoms. If both you and your partner are carriers for the same genetic disorder, there is a 1 in 4 (25%) with each pregnancy that the child could be affected with the disease. Therefore, carrier screening usually doesn’t give you information about your own health, but about reproductive risks, or risk that may exist when you decide to have children.

Just because you may have had a limited carrier report included in an ancestry test does not necessarily mean that you were screened for all the conditions common in your ethnic background.

Some DTC tests also provide information about carrier status in their results report, which tells you if you are a carrier for certain genetic conditions. So if you’ve already had an ancestry test, do you need to get genetic carrier screening? YES! DTC tests are not as comprehensive or accurate as the type of genetic testing ordered by a healthcare provider. For example, it is possible that someone is a carrier of a condition that’s not included in the DTC test. It is also possible that someone’s results are inaccurate (i.e. testing says they are negative but they are positive or vice versa).

Just because you may have had a limited carrier report included in an ancestry test does not necessarily mean that you were screened for all the conditions common in your ethnic background. For this reason, it is important to know what type of testing you had done and speak with a healthcare provider to ensure that you get the appropriate carrier screening.

For more information about genetic carrier screening, visit genetestnow.com.

Exclusive offer for Jewish Journal readers. Save $36 on a genetic carrier screening kit from JScreen. Visit genetestnow.com/getting-tested and use promo code JJLA36.

GeneTestNow.com is a nonprofit initiative of the Doris Factor Endowment Fund of the Jewish Community Foundation of Los Angeles.