New research from Boston Children’s Hospital shows it may be possible to identify children at risk for autism spectrum disorders (ASDs) through a blood test, making screening faster, easier and less expensive than many ASD tests available at the moment.
Currently, ASDs are usually diagnosed through careful assessment of a child’s behavior. For the most part that’s an accurate diagnostic technique, but its main drawback is how long it takes. An accurate behavioral assessment can only take place at an age when most children have developed a long list of language, communication and other social and interpersonal skills. Many times these clues can be subtle, and since these skills take time to emerge naturally, most children in the U.S. aren’t fully diagnosed with an ASD until they are at least 5 years old.
But a blood test that could identify an ASD genetically could be given to children much earlier in life, allowing for earlier diagnoses and interventions, possibly even before symptoms develop.
Led by Sek Won Kong, MD, of the Boston Children’s Hospital Informatics Program (CHIP) and Isaac Kohane, MD, PhD, director of CHIP, the research team analyzed blood samples from 66 patients with ASDs and compared them with 33 children without ASDs. They were looking for clues that could identify differences in gene activity in people with and without ASDs. After much work, the team found a 55-gene “signature” that was able to correctly identify or rule out autism in 68 percent of samples—which is more accurate than most current test methods involving genetics.
“It’s clear that no single mutation or even a single pathway is responsible for all ASD cases. But 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,” says Kohane. “And we can do it relatively inexpensively and quickly.”
More research needs to be conducted before this type of testing becomes common practice, but what it could mean for the future of testing for ASDs, as well as early intervention, is very exciting.