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Diagnose genetic disorders in sick newborns in 50 hours

Posting in Cities

Up to a third of the babies admitted to neonatal intensive care units have a genetic disease.

Using faster DNA sequencing technology, scientists have developed a new rapid 2-day test that can sequence the entire genome of newborn babies.

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.

  1. 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.
  2. 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.
  3. Computers then map those to the entire set of roughly 7,500 genes and genetic diseases – compiling a list of potential suspect genes.
  4. 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.

[Via Nature, Technology Review]

Image: Illumina’s HiSeq 2500 / Illumina

— By on October 12, 2012, 5:33 AM PST

Janet Fang

Contributing Editor

Janet Fang has written for Nature, Discover and the Point Reyes Light. She is currently a lab technician at Lamont-Doherty Earth Observatory. She holds degrees from the University of California, Berkeley and Columbia University. She is based in New York. Follow her on Twitter. Disclosure