2013-07-24

Co.Exist

A Blood Test For Autism Begins Clinical Trials, With A Little Help From Google

Google is investing more than $15 million in biotech firm SynapDx, which has created a blood test that can identify autism in children as young as 19 months old.

A Massachusetts-based biotech firm that’s creating a blood test for autism just got a major boost, from Google. SynapDx announced a $15.4 million funding round led by Google Ventures—an investment that could create a world-changing diagnostic tool: a blood test for children that accurately diagnoses autism spectrum disorders.

SynapDx’s autism blood test is currently in the early clinical trial phase. The company is seeking participants for its clinical trials at 20 sites nationwide, with the end goal of accurate autism diagnoses in children as young as 19 18 months old. The earlier children can be diagnosed, the more likely it is that interventions will work.

New innovations in bioinformatics and genome sequencing have made it possible for autism spectrum disorders to be diagnosed through blood tests, but SynapDx is one of the very few companies currently working in the space. According to Boston Children’s Hospital, which developed the gene expression techniques at the core of the autism test, it has an 85% accuracy rate for diagnosing autism spectrum disorders. SynapDx says the blood test is intended as an assistive tool for clinicians rather than a product that diagnoses entirely on its own.

Once a patient gives blood, SynapDx tests for certain gene expressions that may form the basis for an autism spectrum disorder biomarker. Several recent studies have found different varieties of gene expression signatures in people on the autism spectrum that are believed to be tied to the condition. Apart from allowing accurate diagnoses for parents and loved ones, there is also potential in the medium term future for treating autism via gene therapy. The $15.4 million Google funding round, which also includes investment by Foundation Medical Partners, is aimed at funding the ongoing clinical studies. SynapDx also announced that Google X's Andrew Conrad will join their board of directors.

"The best diagnostic tests of our era will be developed at the nexus of advanced genomics and cutting edge informatics. SynapDx stands to revolutionize the autism field while building the pediatric genomics company," Conrad said in a statement.

Conrad’s role also sheds light on an interesting trend: Google’s increased interest in health care and bioinformatics. Google X is Mountain View’s secretive lab where Google Glass, self-driving cars, and other similarly futuristic technological products are perfected. Before joining Google X, Conrad was chief scientist for genome testing house Labcorp. Bioinformatics and genomics make perfect sense for Google’s mission to organize the world’s information and make it both accessible and profitable.

SynapDx licensed the gene expression research at the heart of its product from a team at Boston Children’s Hospital led by Louis Kunkel and Isaac Kohane. The team found a unique gene expression signature of 245 genes either switched on or off in people with autism spectrum disorders. Kohane wrote in a statement that "the signature we obtained supports the hypothesis that a number of mutations, rather than a single mutation, are responsible for autism spectrum disorders."

No timetable has yet been announced for SynapDx’s product to be released commercially.

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  • Bubba Nicholson

    RBCs provide a poor harvest of DNA.  DNA markers may identify 85%, and that's a good enough screener, but other tissues which may be less invasively sampled (tears, saliva) might be utilized if the conformation of soluble pheromone receptor protein associated with the disease is instead the marker.  A simple electrophoresis might be enough, surely easier and cheaper than DNA expression testing.