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Considering Kids? What to Know About Genetic Testing

by Rachel Crowell
November 22, 2017 | Health

Are you thinking about having kids or have you already conceived? Once you’ve decided to take the plunge, it’s easy to get wrapped up in daydreams about cute onesies or tiny shoes. If you’re a planner, you’ve likely started some shopping lists or to-do lists to keep yourself organized.

Genetic Testing pbs rewire
Source: Genetics Home Reference

But there are some decidedly less cute—albeit incredibly important—things to consider, too. Genetic testing lands on that list.

While it’s much more pleasant to dream of that jungle-themed onesie than to worry about the possibility of genetically inherited conditions, genetic counseling can help you understand how you and your partner’s background might predispose your future children to inheriting certain conditions, according to Jennifer Hoskovec, a prenatal expert for the National Society of Genetic Counselors.

For example, did you know that even if you and your partner are healthy, together you still might have a 25 percent risk of having a child born with cystic fibrosis?

With that in mind, sitting down with a genetic counselor is an opportunity to decide which genetic tests you might want to pursue with the help of a clinical geneticist. One such geneticist is Susan Klugman, director of clinical genetics for the American College of Medical Genetics and Genomics.

Hoskovec and Klugman explained how the genetic counseling and testing process works and addressed its benefits and limitations. Here’s your guide to the process.

Searching for genetic mutations

Let's start at the very beginning, and assume you've decided to meet with a genetic counselor. At your first appointment, the counselor will want discuss the family history and ethnic background of you and your partner, Hoskovec said. The first part might seem more intuitive than the second, but your ethnic background can help determine your risk for certain diseases, Klugman explained.

For example, people with Ashkenazi Jewish heritage are at an increased risk of carrying Tay-Sachs disease. Cystic fibrosis is common among white people and sickle cell disease is common among African American people, according to the Genetics Home Reference.

With your background established, the counselor can then lay out your testing options. You can expect to provide blood samples.

The goal of initial genetic testing is typically to determine if you and your partner are a “carrier couple,” Klugman explained, meaning you and your partner each carry one mutated copy of a gene. Both partners in a carrier couple can be healthy, but if their child inherits two copies of a mutated gene, they can develop a disease that’s linked to that genetic mutation.

For example, carrier couples for cystic fibrosis have a 1 in 4 chance of having a child with the disease, the Cystic Fibrosis Foundation reported. The likelihood that their child will be born without cystic fibrosis and won’t be a carrier for it? Just 1 in 4.

Genetic testing can give you and your partner the peace of mind that you aren't a carrier couple, the experts said.

But if you are, your medical team can use these results to guide you in decision-making. You can take steps to safeguard your child's health.

Genetic testing for baby, too

If you have already conceived and you find out you are a carrier couple, one option is to genetically test the fetus. If the fetus has been gestating for at least 16 days, genetic testing can be conducted on fluid collected during an amniocentesis, Klugman said. If the fetus is only 11 to 13 weeks gestation, chorionic villus sampling can be an option.

Genetic Testing pbs rewire
Source: Live Science

If testing indicates your child carries two mutated copies of a gene, your medical team can provide you with information that you can use to decide how to move forward.

Possible next steps aren't limited to deciding whether you intend to continue with the pregnancy. You and your medical team can take steps to prepare for a child born with a pre-existing condition. For example, with some genetically inherited conditions, there are changes (such as diet adjustments) that can help the child right after they are born, Klugman noted.

If you haven't yet conceived and learned through testing that you are a carrier couple, you can choose to conceive using donated eggs or sperm to avoid the risk of passing on a disease, Klugman said.

Your genetics, your decision

All genetic testing isn’t created equal, the experts explained. And, it isn’t feasible to test one couple for every genetic mutation. With cystic fibrosis alone, there are more than 1,700 known mutations linked to the disease, the Cystic Fibrosis Foundation noted.

A lot of factors might influence your decision about which testing to seek and when you choose to have that testing done. One is insurance coverage. Since genetic testing is getting to be a more common practice, the price of many tests has gone down and more insurance companies are willing to pay for it.

“Not all (insurance) companies will pay for pre-conception testing,” however, Klugman said. If your insurance won’t cover pre-conception testing, you'll have to choose between footing the bill yourself or postponing the testing until you have conceived.

After your initial genetic counseling appointment, you may decide you don't want to pursue any testing. No genetic tests can predict with 100 percent certainty the health of your future child. With each disease and test type, there’s a risk that you and your partner truly are carriers or that your baby will be born with a condition, despite a negative test result, Klugman said.

Rachel Crowell
Rachel Crowell is a Midwest-based writer exploring science and math. Follow Rachel on Twitter at @writesRCrowell. Reach Rachel at [email protected]
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