Genetic testing of newborns is on the rise, but it's not without controversy. Here's what parents need to know before they order a test.
mom holding happy baby against double helix background
Photo illustration by Sarina Finkelstein; Getty Images (2)

At-home DNA test kits are everywhere these days, but they're not just for grownups anymore. An increasing number of parents are opting their babies in for at-home genetic testing—but there's a lot to consider here.

According to the Council for Responsible Genetics, 98 percent of newborns undergo some kind of genetic screening. Can these tests benefit your baby's health, or do they just cause unnecessary worry? To find out, we spoke to medical professionals to learn more about the genetic testing process and results.

A big concern over at-home DNA test kits is that parents and even doctors may make false predictions of diseases based on the newborn's DNA findings. "DNA test kits are a very nonspecific test for children who don't have any indication for being concerned about their health," Jeffrey Botkin, M.D., a pediatrician and ethicist at the University of Utah, told Stat. "It just yields a ton of confusing information that I think is not going to prove to be valuable on balance."

Some consumer-initiated, physician-approved tests, like Sema4 Natalis, however, test for more than 190 childhood conditions "that may be treated with medication, dietary modification, or other therapies," says Sally Burn, Ph.D., director of scientific communications at Sema4, the patient-centered health intelligence company behind the Natalis Newborn Screen. An example of these conditions includes atypical epilepsy, spinal muscular atrophy, anemia, glycogen storage disease, and certain childhood cancers.

When these conditions are detected early, parents and pediatricians can take proactive steps with a child's health. "By taking proactive steps, they may be able to stop the disease in its tracks and prevent potentially non-reversible, debilitating symptoms before they ever happen," said Dr. Burn.

At-home DNA tests can also provide parents an analysis of their child's response to certain medications. The Sema4 Natalis Newborn Screen includes a pharmacogenetic analysis of a child's response to medications commonly prescribed during childhood.

"This analysis can help doctors personalize treatment for a child throughout their life," said Dr. Burn. "With this analysis, parents can discover whether their child is likely to experience side effects or sensitivity to more than 40 medications, including common antibiotics. For example, this analysis detects a genetic mutation known to cause sensitivity to a common antibiotic called gentamicin. Early detection of this mutation and avoidance of gentamicin may help prevent serious side effects, including hearing loss."

Is an at-home DNA test right for your baby?

That's a decision to be made between parents and pediatricians. It's important to note, though, that not all at-home DNA tests are created equal.

"If you did one of the direct-to-consumer companies that's intended more for entertainment, it doesn’t report much clinical data anyway," said Megan Tucker, MS, LCGC, the director of Indiana State University's Genetic Counseling Graduate Program and the Union Hospital's Genetic Counseling Clinic. "However, a lot of families will take the raw data and upload them to another company hoping to receive more medical information. If that's the style of testing that someone is doing, then I would not put a lot of stock in the results at all."

But some labs, like Sema4 and Invitae, do what Tucker described as "clinical-grade testing." They "have the proper certifications and professionals in place," she explained, so you're less likely to get a false positive or confusing results.

"I would take these results a lot more seriously," said Tucker.

What if your child's at-home DNA test yields troubling results?

If a genetic disorder or abnormality is detected, the test provider may give you information on how to connect with a certified genetic counselor. If you're not given resources with your results, Tucker would recommend turning to the National Society of Genetic Counselors ( or the American Board of Genetic Counseling (

"There are some genetic counselors that are able to do phone consultations, so you can be anywhere," she said. "You can search by city and state, so sometimes you can also find somebody locally. That is what I would want a family to do before they do too much internet digging. Sometimes, some of these conditions have a huge range of symptoms, and if you just Google it, you're almost always going to find the most severe end of the spectrum."

Ideally, the child's pediatrician would be involved in moving forward with a genetic counselor. If this isn't the case, Tucker thinks "parents should feel empowered to reach out to a genetics professional themselves."

"I would never want a family to bring something like this to a pediatrician and be told, 'No it's not a big deal, or, 'We're not sure what to do with these results,' and then the parents don't think they have anywhere else to go," she said.  "A lot of genetic offices will accept direct referrals."

Testing for peace of mind

Kathryn K., a mom of three boys, said she "jumped at the opportunity to use the Natalis test," which launched shortly after her youngest son Asher was born.

"I wasn't particularly worried about my son being at risk for any genetic diseases—especially after he'd just gotten a clean bill of health after spending 26 days in the NICU—but it is always nice to have more information to rule out things to give me peace of mind," she explained. "Luckily, Asher tested negative for all 193 diseases tested," Kathryn said. "I felt reassured about his health and glad that I'd taken the proactive step to screen him."

Kathryn noted that the test provided a "really simple summary chart" with the results of Asher's pharmacogenetic screen. This shows which medicines he should avoid based on the genetic variants he carries, and it's now a part of Asher's medical records.

If you are interested in genetic testing, you can get more information from your child's pediatrician or the National Society of Genetic Counselors (