Researchers outline method to create gene list for autism-linked genetic variants

July 21, 2020

A multidisciplinary group of autism researchers proposed a new method for identifying whether certain gene changes are linked to autism, in a research study published in April in the journal Nature Reviews Genetics.

“Being able to link autism with specific genes allows us to know how certain gene changes impact a person with autism, ultimately helping us to develop tailored treatments that will support that person,” said Dr. Thomas Frazier, Ph.D., Autism Speaks chief science officer and an author of the paper.

After evaluating this process in other conditions, the research group applied an existing genetic approach to 11 genetic variants commonly linked to autism by reviewing the known scientific studies about those gene changes in autism.

This genetic approach, referred to as ClinGen, enables researchers to score the information from each study to decide whether a strong association between autism and a particular gene may exist.

Of the 11 genes reviewed, five showed a strong level of confidence as a gene associated with autism spectrum disorder — based on the available research evidence.

To continue this work, the researchers suggested a standard set of information that researchers need to provide in future published genetic studies. This consistent approach will allow other genetic variants and their phenotypes to be reviewed for a more detailed description of their link to autism.

With a better understanding of the health issues around genetic variants, and as more families get the genetic testing recommended by the American Academy of Pediatrics for their children with an autism diagnosis, providers will be better able to offer autistic children and adults more personalized health care and supports.

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