What Can You Learn From Pre-Pregnancy Genetic Testing?

photographed by Ashley Armitage; modeled by Caitlin Engler; produced by Lorenna Gomez-Sanchez; produced by Megan Madden.
Now that genetic testing is kind of trendy thanks to home DNA tests, more people are curious about how their genes impact their health. And as more people learn about their own health history, they might also be wondering how their genetic makeup will affect their future offspring's health.
"We all carry changes in our genes — we can call them variants or mutations — and it’s totally normal to be a carrier of a recessive genetic disease," says Katie Sagaser, MS, CGC, a prenatal and preconception genetic counselor at Johns Hopkins Medical. Pre-pregnancy or preconception genetic testing can help couples identify reproductive risks that they might encounter, based on genetic mutations that each partner carries, she says. While you can't take these pre-pregnancy tests at home, they are available through genetic counselors.
But like pretty much everything involved with pregnancy and childbirth, deciding to get genetic testing before you get pregnant is a very personal decision. The most common reason why people seek out genetic counseling before getting pregnant is to see if they're a carrier for certain genetic conditions, Sagaser says. The whole goal of this is to give couples knowledge of their risk so they can make their own informed decisions about reproduction, she says. Some people are eager to learn about their genes, so that they know what their options are before getting pregnant, and others would rather take their chances. So, it's complicated.
Whether you're thinking about getting pregnant in the future or just wondering what genetic testing involves, here are some questions you may have about pre-pregnancy genetic counseling:
What are you looking for during pre-pregnancy genetic counseling?
The main type of testing that people do before having a kid is something called "carrier screening," which looks at you and your partner's DNA (usually collected from saliva or blood) to see if someone carries a genetic change (aka mutation) for certain disorders, says Lauren Westerfield, MS, CGC, a genetic counselor and clinical instructor at Baylor College of Medicine, who specializes in preconception testing and screening. While carrying a genetic mutation won't make someone sick, if their partner carries a risk factor or mutation for the same disease, their kid could be born affected with it. "It’s basically spell-checking your genes, and saying, are there any changes that this gene could keep it from something or pose a risk to a future pregnancy," she says.

It’s basically spell-checking your genes, and saying, are there any changes that this gene could keep it from something or pose a risk to a future pregnancy.

Lauren Westerfield, MS, CGC, a genetic counselor who specializes in preconception testing and screening
What types of conditions are you looking for?
Most of the time, genetic counselors will test for panels, or groups, of genetic conditions. It can be between 5-10 or even up to 100 conditions, Westerfield says. Some common examples include cystic fibrosis, spinal muscle atrophy, and Tay-Sachs disease, Sagaser says.
Who should get testing?
Some Ob/Gyns will bring up the option of genetic testing during your regular checkup, Westerfield says. If a doctor recommends testing, usually your insurance will cover the cost, otherwise it can cost between $100 and more than $2,000, according to the National Institutes of Health. Or often people seek out genetic testing because they know they have a family history of a certain condition, Sagaser says. Based on decades of research, geneticists know that certain conditions tend to cluster in certain ethnic groups (for example, people of Ashkenazi Jewish heritage may have an increased risk of developing Tay-Sachs disease), so sometimes people want to know if they're at a higher risk.
Other times, people are just "information-seekers" who want to know as much as they can before getting pregnant, Westerfield. "Really, genetic carrier screening can be helpful for any human who's thinking of reproducing," Sagaser says. If you're interested in getting pre-pregnancy genetic testing, you can use the National Society of Genetic Counselors' website and search for ones in your area.
Do you have to get pre-pregnancy genetic testing?
Nope. Westfield says she likes to think of genetic testing as a tool. "You have lots of tools in your tool kit, but you don't necessarily need to use all of them at once," she says. For some families, genetic testing would be very helpful to them. For other families, it's a tool they're okay not using. "There's no right or wrong answer," she says. "What's most important is that the family is educated so they can make the decision they feel is best for them — whether that's genetic testing or not."

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