Deep dive into newborns’ DNA can reveal disease risks — but is it worth it?

Deep dive into newborns’ DNA can reveal disease risks — but is it worth it?

A deep dive into a newborns' DNA could reveal disease risk — but is it worthwhile?

New research suggests that taking a deep dive into newborns' DNA can turn up potential disease risks not caught by standard screening — but the jury's still out on whether routine genetic testing of newborns is worth it. Here’s the rundown:

• The background: The findings are some of the first results from the BabySeq project, a clinical trial that compared genomic sequencing to standard newborn screening. The researchers will continue to follow the BabySeq families to keep tabs on how having a baby's genetic information plays out over time.
• The findings: Sequencing revealed genetic mutations that raised the risk of childhood conditions — most often heart conditions or hearing loss — in 9 percent of the babies tested.
• The takeaways: The study's authors say their early results suggest there's some value to testing a baby’s DNA. But the practice also comes with downsides, from the cost of sequencing to the risk of false positives. And just because children have genetic variants doesn't mean they'll develop a disease, which means families could experience unnecessary stress and kids could undergo costly medical care they didn't ultimately need.