Can Genetic Testing Determine Autism

Over the last several decades, the number of children diagnosed with autism spectrum disorder (ASD) has risen significantly. According to the CDC, approximately 1 in 36 children in the United States is diagnosed with ASD.

The causes of autism are still being studied, and while the jury is still out on whether autism is solely genetic or if environmental factors also play a role, we do know that genetics has a meaningful influence on its development. This is why parents often want to know if genetic testing can determine autism.

EN2: One Genetic Factor Associated With Autism

The EN2 gene is important in the development of the brain. Variations in this gene can lead to abnormal brain development, which in turn increases the risk of ASD.

Genetic tests may be able to identify whether someone has variations within their EN2 gene that have been associated with increased risk of ASD. EN2 is just one of the genes researchers have associated with autism risk. There are actually more than 100 genes that all appear to impact the risk of ASD, which means genetic testing for ASD risk can be extremely complex.

What Does the American Academy of Pediatrics Recommend?

The American Academy of Pediatrics recommends genetic testing for individuals with autism spectrum disorder. In one study, researchers found that genetic testing is important for toddlers diagnosed with ASD as it led to further medical recommendations.

The American Academy of Pediatrics also recommends that people with developmental delays and intellectual disabilities seek genetic testing for Fragile X syndrome and other genetic disorders.

How Genetic Testing Can Help With Autism Treatment

In addition to genetic testing for autism, genetic testing may also be able to help with medication management. The field of pharmacogenomics provides insights about how a person's genes impact the metabolism of medications. Pharmacogenomics testing may be able to help healthcare professionals identify the best medications for treatment.

The Benefit of Genetic Counseling

Genetic counseling may be very beneficial for parents who have a child with autism. After receiving an autism diagnosis, a genetic counselor can help parents understand what the diagnosis means, what caused it, and what the child's potential risk for autism may be going forward.

Whole Genome Sequencing and Autism

While Sequencing does not perform genetic testing that is specific for autism or ASD, our whole genome sequencing service includes sequencing of the EN2 gene as well as all other genes that are known to be associated with autism and ASD. This is because whole genome sequencing obtains data on all 30,000 genes, covering approximately 100% of a person's genome.

Whole genome sequencing data can be quite technical to interpret. If you are interested in using this service to explore genes associated with autism, working with a genetic counselor or healthcare professional to help interpret the data is recommended. Genetic counseling is available through the Partner Marketplace.

Learn more about whole genome sequencing from Sequencing or upload your existing DNA data for free to get started.