March 9, 2022

March 2022: Genome sequencing as a first-line diagnostic test in newborns: Does it serve the underserved and low-income communities?

Loading ...

Genome sequencing holds great potential to diagnose newborns with phenotypes suggestive of a genetic disorder. However, this technology has not been widely adopted for this population, and particularly not in newborns from underserved and low-income communities.

To provide data as to the utility of this approach, a team of researchers in the South conducted a clinical study that aimed to detect genetic disorders via genome sequencing in underserved African-American and low-income communities, and compared the results to a more typical diagnostic odyssey. On this month’s GenePod, Greg Cooper, PhD, faculty investigator at the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama discusses the results.