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Originally published October 3, 2012 at 5:33 PM | Page modified October 4, 2012 at 10:47 AM

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New technique provides speedy diagnosis of rare genetic disorders in infants

Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use.

Bloomberg News

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NEW YORK — Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use.

Researchers at Children's Mercy Hospitals and Clinics in Kansas City, Mo., created software that takes raw data from DNA-scanning machines and combs though hundreds of genetic disorders to detect disease-causing mutations. The system provided likely diagnoses for three of four sick infants in about two days, results published in Science Translational Medicine found.

The new method has the potential to make genome sequencing practical for neonatal-intensive-care units, enabling doctors to diagnose mysterious genetic diseases more quickly, said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy and a study senior author. Fast diagnoses of sick babies could lead to life-extending treatments sooner in some or help avoid futile, costly therapies in others.

"This is the biggest breakthrough in this technology for clinical applications we have seen in a few years," said David Dimmock, a geneticist at the Medical College of Wisconsin and Children's Hospital of Wisconsin in Milwaukee, who wasn't involved in the study. "The ability to sequence and interpret a genome in less than (a) week is huge."

Dimmock said researchers at his institution were working on a similar fast genome-interpretation system, but hadn't published the results. "They beat us to the punch," he said.

There are about 3,500 known genetic diseases of which 500 have treatments, Kingsmore said. Many of these genetic illnesses hit young children. Roughly 20 percent of infant deaths are caused by genetic conditions, according to the study released Wednesday.

The Children's Mercy Hospital system was made possible in part by a new sequencing machine developed by San Diego-based Illumina that can decode the entire DNA sequence of a person in one day.

This generates a colossal volume of raw data that must be analyzed by expert genetic researchers, a process that previously has taken weeks or months.

That's where the system devised by Children's Mercy researchers comes into play. Kingsmore and his team devised smart software that allows treating doctors to enter a sick baby's symptoms.

The software then matches these reported symptoms to known genetic diseases that have similar symptoms, and scans the baby's genome results for likely harmful mutations in relevant genes.

For cases in which treatments are available, detecting the cause of a disease sooner may allow treatments to be started before it is too late, he said.

Kingsmore estimated the total cost of the test to be $13,500.

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