Could a blood test detect autism?

An upcoming clinical trial could lead to earlier diagnoses, researchers say

Scientists this week launched one of the largest clinical trials to date in the search for biological markers for autism-spectrum disorders, which now affect at least one in 50 U.S. children.

Currently, there is no objective test for autism and diagnoses are based on experts' observations of children's behaviors.

The 20-site, 660-patient study—which is sponsored by SynapDx, a lab services company in Massachusetts—aims to determine whether a blood test can distinguish autistic children from children with other developmental delays, the Wall Street Journal reports.

The new study is based on previous research from several academic groups that suggest it would be possible to identify autism by looking at the quantity of particular molecules in blood.

For instance, Isaac Kohane—a professor of pediatrics, health sciences, and technology at Boston's Children's Hospital and Harvard Medical School—says he and his colleagues have found a "substantial and persistent difference" in molecules produced by approximately 55 genes that could identify about three-quarters of children with autism.  SynapDx's blood test had a similar accuracy rate in a pilot trial of about 270 patients.

According to the Journal, researchers attempting to develop a diagnostic or detection test need to ensure that their tests can accurately identifying individuals with a condition without a high number of false positives.

Although researchers say that biomarkers, such as those identified by SynapDx's blood test, are unlikely to replace traditional diagnoses, such tests could augment pediatricians' and parents' observations and help autistic children see a specialist sooner (Wang, Wall Street Journal, 4/23).


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