50-hour whole genome sequencing provides rapid diagnosis for children with genetic disorders

October 3, 2012

Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the team describes STAT-Seq, a whole genome sequencing approach - from blood sample to returning results to a physician - in about 50 hours. Currently, testing even a single gene takes six weeks or more.

Speed of diagnosis is most critical in acute care situations, as in a unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq, with consent from parents, the investigators diagnosed acutely ill infants from the hospital's NICU. By casting a broad net over the entire set of about 3,500 , STAT-Seq demonstrates for the first time the potential for genome sequencing to influence therapeutic decisions in the immediate needs of NICU patients.

"Up to one third of babies admitted to a NICU in the U.S. have genetic diseases," said Stephen Kingsmore, M.B. Ch.B., D.Sc., FRCPath, Director of the Center for Pediatric at Children's Mercy. "By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children."

Genetic diseases affect about three percent of children and account for 15 percent of childhood hospitalizations. Treatments are currently available for more than 500 genetic diseases. In about 70 of these, such as infantile and Krabbe disease, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses.

STAT-Seq uses software that translates physician-entered clinical features in individual patients into a comprehensive set of relevant diseases. Developed at Children's Mercy, this software substantially automates identification of the DNA variations that can explain the child's condition. The team uses Illumina's HiSeq 2500 system, which sequences an entire genome at high coverage in about 25 hours.

Although further research is needed, STAT-Seq also has the potential to offer cost-saving benefits. "By shortening the time-to-diagnosis, we may markedly reduce the number of other tests performed and reduce delays to a diagnosis," said Kingsmore. "Reaching an accurate diagnosis quickly can help to shorten hospitalization and reduce costs and stress for families."

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1 / 5 (3) Oct 03, 2012
If this is true (I have no reason to believe it's not), such advances in capabilities make government-run healthcare all that much more dangerous.

Since I'm not running for President, vote for Romney. He's the best of a sorry lot, and the least likely to look at your health records and judge you as to viable health care recipient or not.
not rated yet Oct 03, 2012
Outstanding. Sectioning the genome and running parallel processes on the segments would reduce turn-around time even more, if that is possible. It can only get better.
5 / 5 (1) Oct 03, 2012
lets see here . . . Mitt Romney decided to punk some kid in highschool, go on a missionary for converting people to a messianic religion instead to dodge going to vietnam, then use his business skills to rip off businesses and people in general, and then says the vast majority of people are irresponsible and that's why they're on the bottom of the pyramid, and you want to vote in Mitt because he changes his tune at the last minute and says he's the one for the middle class? And your a scientists?

I'm convinced i'm of the few sane people on earth.
1 / 5 (1) Oct 04, 2012
DNA sequencing is something so important, it could have been started several hundred years ago and we might have skipped the dark ages where blind faith sought to destroy enquiry and investigations into details which contradicted all religions !

Pity god (errhm moses) didnt think to pepper a few useful sequences in his story...


Any republican not in favour of universal healthcare should visit Canada, Australia, UK, France etc And watch the Michael Moore doco "Sicko" showing just how HMO's abuse their 'insurance' income and make large profits by declining health care for their 'clients'.

Another example of age old piracy but shoved under the guise of un-enlightened capitalist...

I cant take anyone who believes in religious scifi seriously, his religion claims jesus and the devil were brothers and not to mention what moromns think of negros, a worse 'religion' would be hard to find - they even call their 17year olds as 'Elders' WTF !

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