Genetic testing for newborn infants is standard practice in the United States. Most states require a minimum of 32 tests before your baby leaves the hospital.
But some parents want even more information.
For parents interested in expanded genetic testing for newborns, there is now another option.
A testing package called Natalis will screen infants for a total of 193 diseases. The product is from Sema4, a health information company that offers advanced genome-based diagnostics.
While some may delight in access to this data, experts question whether it could lead to confusion for families, as well as potentially expensive or distressing consequences.
What is Natalis?
Unlike standard screening, which is performed at the hospital, Natalis is a direct-to-consumer kit you use at home. Parents can apply for it at the Sema4 website. A doctor from PWNHealth, a virtual health group, has to approve the request. The results, which are obtained through a cheek swab, come with one genetic counseling session.
The total package rings in at $649.
Sema4 CEO Eric Schadt told GenomeWeb that Natalis is designed to identify both common disorders and rare diseases. He believes the screening kit will allow rare disorders can be given greater scrutiny.
“If you’re affected with a rare genetic disorder, the odyssey averages around five to seven years before diagnosis,” Schadt said in the interview. By expanding newborn screening, he added, you’ll know about a disorder “on day one, before clinical manifestation, and then you can start treatment, which can reduce the damage.”
How genetic testing got started
Already, 98 percent of newborns in the United States undergo some kind of screening, according to the Council for Responsible Genetics. That’s approximately 4.3 million babies.
The practice began in the early 1960s with a screening for phenylketonuria (PKU), a disorder that prevents the body from processing amino acids. If unchecked, PKU can cause intellectual disabilities and other serious health issues.
Over the years, different diseases and disorders were added to the screening process. Newborn screening now includes tests for sickle cell anemia, cystic fibrosis, and congenital heart disease, among others.
“For newborn screenings, there’s been a lot of careful thought,” Dr. Mary Norton, professor of obstetrics, gynecology, and reproductive sciences at UCSF Medical Center, told Healthline.
In addition to the federal- and state-mandated screenings, Natalis looks at a host of other rare diseases and disorders.
For example, one of screenings is for WT1-related Wilms tumor (WT) syndromes, encompassing dozens of disorders and diseases, including certain cancers.
In an interview with Clinical OMICs, Schadt said that the genetic variants assessed are those that can cause severe diseases. He stated that Natalis tests for genes with “highly penetrant variants.” A person with one of these variants has a high likelihood of developing the associated disease.
That high-risk factor (“over 80 percent”) should be enough to merit attention, even if the infant doesn’t develop the disease, Schadt explained.
Testing at birth, but a lifetime of concern?
It’s easy to understand why parents would want to sign up for expanded genetic testing on their newborn. Who wouldn’t want the opportunity to know if their child is carrying a gene for a rare disease?
But the way this test is conducted and its results can bring on a barrage of confusion for families, according to the experts contacted by Healthline.
They cited false-positive and false-negative results, questions about who will pay for costly follow-up testing, and the possibility of infants who test positive for a specific disease not being able to get life insurance as adults.
Norton said her first concern is that parents who decide to use Natalis are setting themselves up for unneeded anxiety.
She told Healthline it’s important for parents to understand that even if a genetic screening test is positive, it may end up not meaning much.
“It doesn’t always mean that your child has a disease,” Norton said. “They might just be a carrier.”
Blair Stevens, a genetics expert with the National Society of Genetics Counselors, told Healthline that these types of tests can deliver false-positive results. Due to the complexity of interpreting the results, it can be difficult to determine whether a newborn actually has a specific disorder.
It’s the same for false-negatives, she noted.
“False-negative results can occur because coverage for the conditions on the panel is not 100 percent, and this test cannot rule out every genetic condition,” Stevens said.
Even if a child is 80 percent “likely” to get a disease, there’s still a one-in-five chance that they won’t.
Norton is also concerned about the costly domino effect that a test such as Natalis can cause. Any positive test for a genetic marker will likely follow with a consultation with a pediatrician, she added. That doctor will likely refer them to a specialist, who will likely call for more genetic testing.
She noted that insurance companies don’t have a habit of paying for genetic testing due to the results of a home screening kit. There has to be a medical reason, such as symptoms or a family history, for these companies to cover the costs. Without that initial reason, parents who want further testing may end up spending a lot of money for more sequencing.
“Who pays for that doctor visit, who now pays for that genetic counseling?” she said. “The parents are going to be left fighting the insurance company.”
Stevens told Healthline that life insurance is another issue parents should consider before signing on to use Natalis.
If a specific disease is identified, it could potentially impact their infant’s ability to obtain life insurance decades down the line.
“While this test is not designed to pick up adult onset conditions, we cannot be certain that a genetic finding discovered with a test today won't be found to be related to an adult onset condition in the future,” she said.
Stevens pointed out that life insurance isn’t protected under the Genetic Information Nondiscrimination Act (GINA) of 2008, a federal law that protects individuals from genetic discrimination in health insurance and employment.
“Genetic counselors can help you understand what protections are in place against genetic discrimination,” she said.
Norton understands why parents would want to know if their child has a genetic disorder. And she’s glad to see that Natalis comes with a genetic consultation so parents can get some initial perspective should they get a positive test result.
Still, she has reservations about Natalis and wouldn’t encourage parents to pursue the test.
“In general, I would say steer clear,” she said. “Because you open yourself up to a situation where you don’t know what to do.”
Stevens empathizes with parents who want information about their infants’ long-term health. But she’s not convinced that an at-home genetics test is the best way to go about gaining that added insight.
“While genetic sequencing tests are frequently used and highly accurate, the interpretation of genetic information often lags behind,” she said.
“I would encourage any parent considering this test to seek out pre-test genetic counseling by a healthcare professional with genetics expertise, such as a genetic counselor, to ensure they understand the benefits, risks and limitations of testing.”