In 2019, I wrote about how sequencing the genomes of newborns might compromise their privacy if genetic information was not adequately protected as they grew up. Now five years later, researchers are recognizing a perhaps unexpected benefit of newborn DNA analysis – explaining seemingly unrelated symptoms in relatives.
Newborn Screening for Metabolites, not DNA
Screening newborns for telltale molecules other than DNA has been around for decades. Blood from a heel prick shortly after birth is tested for various molecules (metabolites) that serve as biomarkers of specific conditions.
The Recommended Uniform Screening Panel (RUSP) tests for 61 disorders. The list varies by state (see Baby's First Test). Illinois tests for 57 conditions, for example, and California for 80. Separate programs have expanded the RUSP over the years.
The goal of newborn screening is to identify "actionable" conditions early enough to prevent or treat symptoms. But some people see newborn screening as creating "patients-in-waiting," causing anxiety among new parents.
To continue reading, go to DNA Science, where this post first appeared.