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Researchers Find Faster Ways To Diagnose Genetic Diseases

Children's Mercy Hospital
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Children's Mercy Hospital

Researchers in Kansas City may have developed a way to speed up the diagnosis of critically ill infants with genetic diseases.

Dr. Stephen Kingsmore, with Children’s Mercy Hospital, says the use of whole genome sequencing in order to definitively identify genetic diseases has long been too complex, costly and time-consuming to have real world applications.

“The big question up until now has been how does the doctor pick the right gene to sequence? After all, there are 3,500 [known] diseases,” says Dr. Kingsmore. “In addition to that, how can he or she get the results fast enough to be meaningful?”

But Kingsmore, along with fellow researchers and a software company, have now come up with a new technology they believe will change all of this.

Genetic sequencing typically takes more than a month to complete, and the existence of thousands of genetic disease possibilities, many of which are still unknown, has long added to the challenge of making a diagnosis. Doctors currently have some kind of treatment for about 500 diseases.

The newly developed method rapidly sequences genes while narrowing the search to just the ones associated with a patient’s symptoms.In a study of five critically ill infants at Children’s Mercy Hospital, researchers were able to use the new process tohelpidentify genetic diseases in four of the infants (the group also successfully identified genetic diseases in two retrospective cases).

The kicker: it only took about two days.

“The significance of this is pretty straightforward. We can now consider whole genome sequencing to be relative for hospital medicine,” says Dr. Kingsmore, who adds that doctors have long been frustrated by hyped promises of whole genome sequencing, which scientists first accomplished over a decade ago.

Kingsmore’s research has been published this week in the journal Science Translational Medicine. He and others hope the new method will ultimately lead to a quicker diagnose and treatment of rapidly progressing genetic diseases among newborns. As it stands, genetic disorders are the leading cause of what brings infants to the intensive care unit at Children’s Mercy Hospital.

Kingsmore believes the accuracy of the new sequencing method will improve as scientific knowledge of genetic diseases grows. Children’s Mercy hopes to expand the use of the test over the next year.

It’s not cheap, though. The process costs about $13,500, according to Kingsmore. He thinks that could be outweighed by a quicker diagnosis and reduced hospital stay.

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