A Blood Test to Detect Genetic Markers for Autism?

By Georgianna Reilly, LMSW
SJS Staff Writer

Diagnosing an individual on the Autism Spectrum is a complex game of observations, testings, and assessments. Typically diagnosis is best made by a team of specialists composed of, but not limited to, a Social Worker, a psychologist, a speech language pathologist, a psychiatrist, and a behavior and/or occupational specialist. It can be time consuming and frustrating for families, clients, and professionals alike, but could there be a quicker diagnosis on the horizon? Research studies are suggesting yes.

SynapDx, a laboratory company specializing in blood based tests for diseases, has licensed and will soon begin clinical trials into a blood test for Autism. This blood test appears to detect autism accurately among boys, and has shown success in trails with ASD populations, with an accuracy rate of about 70% for detecting the biomarkers. While successful, the test is still turning out too many false positives, and is need of adjustments and improvements.

While tests such as this are great, it’s difficult to say the overall benefit because Autism is the ‘result’ of so many genetic and other factors. The article suggests that “In that respect, autism is beginning to look a lot like what the cancer biologists are telling us about breast cancer, or lung cancer,” he says. “There may be hundreds of different molecularly defined cancers, which each have their own specific optimal treatment.” Similarly, autism spectrum disorders, too, may have diverse genetic roots, and appear clinically in slightly different ways from one patient to another.”

As someone who worked for an autism clinic for 4 years lets hope that we can find an easier way to diagnosis, allowing us to spend more time meeting the clinical, psychosocial, and emotional needs of these patients and their families.