What does the newborn heel prick test mean for you? Hopefully, and usually, a good deal of peace of mind. The blood test checks for disorders that aren’t immediately apparent after delivery, helping with early intervention or treatment if needed. While the list of disorders varies from state to state, the tests will typically screen for about 30. But a new test is looking to boost that number way up, screening for 193 diseases in baby’s genes.
Sema4 Natalis is an at-home DNA test that looks for possible mutations associated with 193 different conditions, listed here. It also looks at how baby will respond to 30 commonly-prescribed medications. Parents mail in a cheek swab from their baby, and Sema4 uses DNA sequencing to detect any changes in their genes, boasting over 95 percent accuracy. And all 193 conditions can be treated with medication, dietary modifications or various therapies, so parents don’t have to feel helpless if anything tests positive.
Therein lies a potential problem, though; just because baby tests positive for a gene variant doesn’t mean they’ll develop the condition it’s associated with. Additionally, they could live their whole lives being asymptomatic.
In an interview with Newsweek, geneticist Laura Hercher of Sarah Lawrence College sums up the implications of the Sema4 test best: “For some people it may result in better care, and for some people it may result in unnecessary medical care.”
It all depends on how much you want to know (and how much you’re willing to spend; tests cost $649 and are not covered by insurance). Testing for cystic fibrosis or epilepsy makes sense. But screening for something like Segawa syndrome, which only has a handful of documented cases worldwide, can lead to more questions than answers.
“I’m saying it’s like a road; the further you walk down it, the dustier and more rural the road gets,” Hercher says. “Newborn screening for the first 10 diseases? No brainer. For the next 20? No brainer. When you’re out there to 190, you’re really in uncharted territory.”