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Autism Blood Test Shows Promise


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Diagnosing autism could soon be much simpler, with researchers saying this week that they’ve developed a blood test that appears to identify those with the disorder even before symptoms are apparent.

The early-stage test developed at Boston Children’s Hospital may be able to flag about two-thirds of those with autism, researchers reported in the journal PLOS ONE.

Currently, clinicians rely on observation to screen children for autism. Most kids are not diagnosed until after age 4, according to the U.S. Centers for Disease Control and Prevention.

But a blood test offers the promise of flagging kids and potentially enrolling them in early intervention programs even before symptoms appear.

In order to develop the test, researchers analyzed blood samples from 66 boys with autism and 33 without the developmental disorder in an effort to establish patterns. Ultimately, the scientists were able to focus on a group of 55 genes that they used to successfully identify autism with 68 percent accuracy in a second test group made up of 104 people with autism and 82 controls.

“It’s clear that no single mutation or even a single pathway is responsible for all cases,” said Isaac Kohane of Boston Children’s Hospital who worked on the research. “By looking at this 55-gene signature, which can capture disruptions in multiple pathways at once, we can say with about 70 percent accuracy, ‘this child does not have autism,’ or ‘this child could be at risk,’ putting him at the head of the queue for early intervention and evaluation. And we can do it relatively inexpensively and quickly.”

The blood test is not yet ready for prime time, researchers said, but it has been licensed to the company SynapDx for further exploration and potential commercialization.

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Comments (11 Responses)

  1. dena gassner says:

    As usual, they left women out. They should not fund research that is not representative.

  2. KA101 says:

    From what I can tell so far (this study is Creative Commons/Attribution, so for once there’s no paywall) it’s acceptably* accurate for boys but little better than chance for girls.

    Still sorting through it but there’s this one-step-closer-to-being-genocided feeling that I’ve got. Not a particularly good feeling to have, and here’s hoping the NTs in the audience never have to feel it.

  3. KA101 says:

    Closing the FN:
    *where “acceptably” is used in the mathematical, rather than the opinion, sense.

    I’d agree w/Ms. Gassner–I’m not sold on the idea that autism is sex-related.

  4. VMGillen says:

    Great – now if only they could get an etiology, this might be worth something! Austism, as it stands, is a collection of symptoms. A blood test has nothing to do with a definitive diagnosis. After years of research and study, it is doubtful that there is a single, universal factor leading to Autism.

  5. Steven Michaelis says:

    Just do the calculations: A 70 % accuracy with a condition that roughly affects 1 in 100. Test 1000 subjects, of whom 10 are on the spectrum – the test will accurately detect 7 of these 10, but it will also find false-positives and diagnose 297 people without ASD as being on the spectrum. Still a lot of work to be done !

  6. Jon K. Evans says:

    Was this test ever tried on adults? I would’ve loved to serve as a control!

  7. Barb says:

    I don’t call 68% accuracy meaningful.

  8. Tacitus says:

    68% accuracy is useless. This is just something else for the Early Intervention (TM) crowd to rally support around. Gotta raise money somehow, and they can’t do it with real science.

  9. Therese says:

    ” …but it has been licensed to the company SynapDx for further exploration and potential commercialization.” So they’ll only share it for profit.

  10. Glen S says:

    From where on earth did the “one-step-closer-to-being-genocided” come? Again, advocacy gone wrong. Yes, the study is quite flawed. This is not the best discussion ever researched, but it is research and as such tells us something we may not have otherwise realized.

    But, this idea that medicine has nothing to offer but a return to the sins of the past is fallacious. Again, if treatments can be developed to help a child overcome a disability; is that not a good development. The majority of parents would agree that it is.

    Somehow, I rather doubt one particular poster ever really faced a situation in which his or her life was actually jeopardized because of his/her disability. Again, with the “us against them” mentality. That believe system does nothing to forward the real needs of individuals with disabilities and their families.

  11. Julie says:

    Again with just the boys. When will girls count? Why is everything about the penis? WE EXIST!!!

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