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First-of-its-Kind Blood Test Predicts Autism

June 28, 2018

Mother and ASD Son

Early intervention can set the stage for their future and drastically improve long-term outcomes for children on the autism spectrum. As its name suggests, the premise of early intervention is to get children immersed in services as soon as possible, ideally between the ages of two and three years old. All of this hinges on a diagnosis, however.

Typically, parents or physicians get an inkling that a child is developing differently, not so much from the things they are doing but rather from those they are not.  It’s not uncommon for families to wait it out, assuming that late-emerging skills will be achieved any day. In this scenario, time is not on their side.  That’s what makes a promising new blood test for diagnosing Autism Spectrum Disorder (ASD) so intriguing.

Blood samples predict ASD with 88 percent accuracy

Researchers used the new approach, based on data about metabolites in a blood sample, to predict ASD with 88 percent accuracy in a group of 159 children. It replicates a 2017 test that correctly identified 98 percent of the ASD cohort in a study involving 149 people. Typically, doctors have diagnosed ASD by looking at a child’s behavior and development.

Learn More About Human Biofluids

In the newest study, “We looked at groups of children with ASD independent from our previous study and had similar success. We are able to predict with 88 percent accuracy whether children have autism,”said Juergen Hahn, lead author, systems biologist, professor, head of the Rensselaer Polytechnic Institute Department of Biomedical Engineering, and member of the Rensselaer Center for Biotechnology and Interdisciplinary Studies. “This is extremely promising.”

(Researchers attributed the lower accuracy in this follow-up study primarily to their use of pre-existing, rather than purpose-created, data sets. The pre-existing data sets included only 22 of the of the 24 metabolites examined in the first study.)

Big data yields predictive algorithm

While many blood tests look for a biomarker, this one looks for patterns.

“Rather than search for a sole indicator of ASD, the approach Hahn developed uses big data techniques to search for patterns in metabolites relevant to two connected cellular pathways (a series of interactions between molecules that control cell function) with suspected links to ASD,” RPI said in a news release.

A blood test for autism would be a game changer. ASD has been identified in about one out of every 59 American children and is four times more common in boys than girls, according to the CDC. It is characterized by deficits in social communication and interaction, as well as restrictive and repetitive behaviors. Early diagnosis and intervention can reduce cost of lifelong care by two-thirds.

Get detailed data with your biospecimens

This exciting research illustrates the scientific importance of not only biospecimens such as blood, but the data that describes them. To provide that data, iSpecimen uses technology to extract and manage compliant, de-identified patient and specimen information directly from medical records and laboratory information systems.

Using this data, researchers can use the iSpecimen Marketplace to procure specimens based on:

  • Patient demographics, including age, gender, ethnicity, race, and geography.
  • Medical conditions covering a wide variety of diagnoses, including ASD.
  • Medications from a wide range of classes, along with outcomes data.
  • Medical procedures covering a wide spectrum of procedures.


ASD can be heartbreaking for families. Early detection using big data derived from biospecimens, however, may end up changing lives.

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