For babies born with the rare genetic disorder phenylketonuria (PKU), their bodies are unable to break down a certain amino acid, which can lead to brain damage and seizures. If found early enough, however, PKU is easily treated, and children with the condition can go on to live a normal life. But sometimes, genetic testing for disorders such as this one come too late, and narrow windows of opportunity for treatment can close up for good.
But now, parents and physicians can have answers regarding a baby’s genetic abnormalities in only a few short days. Researchers from Children’s Mercy Hospitals & Clinics in Kansas City, Mo., have developed a new whole-genome sequencing technology capable of diagnosing genetic disorders in ICU newborns in just 50 hours – a significantly less amount of time than the 12 to 14 days needed for current screening techniques.
The ability to diagnose infants in such a short amount of time could help to speed up available treatments – as well as provide relief or knowledge to anxious parents.