Rapid Genomic Diagnostic Tool Now Available for NICU Patients

An estimated 3.3 million children under the age of 5 die each year from serious birth defects, a worldwide report says. But more effective interventions and the use of medical genetic services, could reduce mortality and disability by up to 70%.

Now HudsonAlpha is bringing an even faster test to help children in the NICU. 

At the HudsonAlpha Clinical Services Lab, LLC., whole genome sequencing is revolutionizing care in newborn intensive care units (NICUs) across the nation. Using whole genome sequencing, clinicians are able to identify disease-causing genetic changes in NICU patients who have not received a diagnosis using standard testing. 

Whole genome sequencing is a genetic test that looks at a person’s entire genetic code, or genome. Our genome carries all of the instructions our bodies need to function and makes us who we are. While about 99 percent of every person’s genome is identical to every other human, the one percent that is unique contains millions of variants. Scientists have discovered hundreds of gene variants that cause or increase a person’s risk of developing disease.

HudsonAlpha’s new STAT Genome pipeline allows clinicians to make a rapid and informed diagnosis, saving precious time when it matters most. Overall, the knowledge STAT Genome brings to the families of critically ill infants is life changing, allowing families to make a more informed treatment plan.

“Rapid results are paramount in the quest to find a diagnosis for critically-ill infants,” says Devin Absher, PhD, HudsonAlpha’s Director for Genomic Health. “With STAT Genome, we can return preliminary findings reports to the ordering physicians in as little as 5 days.”

With STAT Genome, HudsonAlpha is continuing its genomic health mission to bring its expertise to hospitals everywhere. While results of genomic sequencing may not always provide treatable diagnosis, they can provide the peace of mind of knowledge, and elimination of unnecessary, often expensive additional testing.