Diagnose genetic disorders in sick newborns in 50 hours
Up to a third of the babies admitted to neonatal intensive care units have a genetic disease.
The 50-hour turnaround time – compared with the few weeks needed for current methods – significantly shortens the time it takes for diagnoses, jumpstarting treatments and lessening the time to genetic counseling for anxious parents.
The technique was developed by a team led by Stephen Kingsmore at Children’s Mercy Hospital in Kansas City, which plans to offer routine sequencing in the NICU by the end of the year.
- The team used a new DNA sequencing machine (pictured) from Illumina, based in San Diego, California, that could generate a whole genome within 25 hours.
- After taking a drop of blood and extracting the baby’s DNA, the doctor clicks a few buttons from a pull-down menu of disease features they’re seeing in the patient.
- Computers then map those to the entire set of roughly 7,500 genes and genetic diseases – compiling a list of potential suspect genes.
- The system then looks for changes in the DNA code that explain the baby’s illness.
The technology requires no specialized genetic training to find relevant mutations in whole-genome sequences. The cost is $13,500 per child.
There are about 500 genetic diseases that have available treatments. For about 70 of these, starting therapy in newborns can help prevent disabilities and life-threatening illnesses, according to a Children’s Mercy Hospital release [pdf].
They plan to broaden the test to 100 or more babies in order to pinpoint the exact benefits, costs, and potential problems of testing. They also believe they can trim total testing time down from 50 hours to 36 hours by the end of the year.
The work was published in Science Translational Medicine last week.
Image: Illumina’s HiSeq 2500 / Illumina