Blood test accurately predicts autism in children

Blood test accurately predicts autism in children


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SALT LAKE CITY — Autism is a disease that even veteran physicians sometimes have a hard time diagnosing in a process that sometimes takes hours of observation and thoughtful cataloguing of behaviors and symptoms. But what if it was as easy as taking a blood sample?

Soon, it may be. A pediatric endocrinologist from Boston Children's Hospital has published a study that seems to show that it's possible to tell if a child does or will have autism with a blood test. In fact, clinical trials for the test are set to start in early 2013.

Dr. Isaac Kohane, lead author on paper published in PLOS ONE, started by looking at 66 boys with ASD and 33 boys without it, all matched for age. From those boys, the researchers identified almost 500 genes that are associated with autism spectrum disorder in one way or another — by being expressed, turned off or duplicated.

From there, he and his team of researchers developed a 55-gene signature that they thought would indicate ASD with reasonable accuracy — about 68 percent in this case. When they tested a group of 104 boys and girls, it predicted ASD at about 64 percent accuracy for girls and 74 percent for boys.

"We found in comparing kids with autism and without autism that the pattern of genes that are on and off are a very good predictor of which children have or will go onto have autism," Kohane told CTV.

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That's accurate enough to be useful for doctors. But it's not a slam dunk for diagnosis. The test has a high rate of false positives, according to Kohane, meaning that it comes back with an autism diagnosis frequently, even if a child doesn't have it.

That hasn't stopped one company from developing it into a money-maker. SynapDX has snatched up exclusive worldwide licensing rights for both Kohane's test and another blood-based autism detection technology from George Washington University, according to a 2011 press release from the company.

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