Newborn metabolic screening has saved countless lives as a public health standard, but current methodologies have limitations: less accuracy in preterm or sick infants and confirmation of results can be time-consuming. Supplemental DNA sequencing-based screening offers faster turnaround, accuracy and greater peace of mind.

Uncertainty                                                                          

In the activity surrounding childbirth, it is difficult to convey to new parents the capability and limitations of state-required metabolic screenings. “I learned about newborn screening from one small paragraph in my childbirth education class,” says Sarah Wilkerson of Colorado. “The test revealed a powerful piece of information, but we received it too late. My son died from a genetic disorder that is treatable, but I didn't really understand what the test was or what questions to ask.”

A crucial supplement

Newborn screens pre-emptively detect potentially deadly illnesses but carry a risk of false positives, especially in pre-term or sick babies. “Metabolic screening in preterm infants is problematic. A 2014 study gives a false positive rate of 46 percent in the smallest preterm infants,” says Dr. David Randolph, a neonatologist.  “False positives are an issue,” says Catherine Burson, a genetic counselor at HealthONE hospitals. “They require multiple follow-up tests to resolve. The emotional toll, additional time and extra expense are burdensome.”

New sequencing-based testing — fast and unaffected by prematurity — is seen as a crucial supplement. “Currently biochemical assays across states are not consistent,” says Dr. Robert Daber, clinical director at BabyGenes, which focuses on newborn genetic testing. “Depending on where your child is born, disorders may be missed. DNA sequencing can screen for many more disorders and the platform scales with new indications rapidly without additional cost.”

Supplemental genetic testing can quickly provide additional information — offering parents fewer things to worry about.