Genetic testing from the perspective of a genetic counselor

Hello,

As a genetic counselor I get a lot of questions from new and prospective parents about genetic testing. Though testing is routine to your healthcare provider, many of us go into each test with lots of questions about what the outcome may mean for ourselves and our children. Here are a few questions and answers that describe ways to get genetic testing and the impact it might have on your family planning.

“Should I get genetic testing on my own or through my physician?”

Direct-to-consumer genetic tests, such as the carrier status tests offered by 23andMe* can provide valuable insights that may indicate to you and your healthcare provider that more thorough genetic screening would be beneficial.

At this time, no genetic test covers every possible risk. Whether you choose direct-to-consumer testing, or you have testing through your healthcare provider, be sure to ask about the limitations of the test. This will help you understand what the test can tell you and what it can’t and whether additional testing is recommended in your particular case.

You can also talk to your healthcare provider to learn about additional genetic testing and carrier status testing options.

In many cases, carrier testing is offered based on an individual’s ethnic background. Broad-based carrier testing, sometimes referred to as pan-ethnic carrier testing, is available through traditional healthcare providers as well as direct to consumer.

“What can I do if my reproductive partner and I are both carriers for the same condition?”

If both you and your reproductive partner are carriers, you should speak to your healthcare provider to fully understand your options. Learning that you and your partner are carriers before you get pregnant gives you the time to take that information into account when planning your pregnancy.

“Do I need to speak to a genetic counselor?”

If you have questions around genetics and genetic testing, consider talking with a genetic counselor. You can find a local genetic counselor through the National Society of Genetic Counselors.

It is probably not surprising to hear that I am a big proponent of genetic testing. This added knowledge is one more tool you can use to empower yourself as you move through your pre-pregnancy journey. Learn more at 23andMe.

Erynn Gordon
Genetic Counselor
Director of Clinical Development at 23andMe

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* 23andMe tests can be used to determine carrier status in adults from saliva collected using an FDA-cleared collection device (Oragene●DX model OGD-500.001), but cannot determine if you have two copies of the genetic variant. Each test is most relevant for people of certain ethnicities. The tests are not intended to diagnose a disease, or tell you anything about your risk for developing a disease in the future. On their own, carrier status tests are not intended to tell you anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life.