Can Genetic Testing Determine Autism

Over the last 30 years, the number of children with autism spectrum disorder (ASD) has risen drastically. One out of 54 children suffers from ASD in the United States.

The jury is still out on whether autism is solely genetic or if environmental factors play a role. What we do know is genetics does have an influence on the development of it, which is why parents often want to know if genetic testing can determine autism.

EN2: One Genetic Cause of Autism

The EN2 gene is important in the development of the brain. Variations in the 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 that researchers have associated with a risk of autism. 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.

Interestingly, most of these 100+ genes are involved in how neurons in the brain communicate with each other.

Genetic Testing for Autism: What Experts Recommend

Less than half of children with autism have genetic testing. The Autism Speaks’ organization recommends families consider genetic testing for autistic children.

Autism Speaks believes genetic testing can shed light on the cause of autism and future medical conditions. Not only does it help the person who suffers from the genetic disorder, but it can help so many other people.

⁠The Centers for Disease Control and Prevention (CDC) also encourages people to consider genetic etiology when reaching an autism diagnosis. The only way to know about the abnormalities of genes that could be causing the genetic condition is to seek testing, specifically whole genome sequencing or exome sequencing.

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

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

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. For example, 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, genetic testing can provide information about the underlying cause.

Having answers can be quite a relief for parents especially when there’s so much to understand about the condition and the best way to treat it.

Can Genetic Testing Determine Autism?

Genetic testing cannot determine that someone will have autism. However, it may identify an increased risk of autism and can be a good way to support an autism diagnosis.

Parents who suspect their child may have autism should discuss with their healthcare provider or their child’s pediatrician whether genetic testing may be useful. 

The Importance of Early Detection for Better Autism Outcomes

As a parent, you may want to help your child in any way possible, but at the same time, you’re scared of a potential diagnosis of a serious condition. It’s important to understand that early intervention by medical professionals can have a very beneficial impact upon a child with autism. The sooner medical professionals are involved, the better.

Genetic testing offers a way for parents to understand one aspect of their child’s potential risk for autism.

While Sequencing.com does not perform genetic testing that’s specific for autism or ASD, our Ultimate Genome Sequencing service includes ⁠whole genome sequencing that will sequence 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 (~100% of a person’s genome).

Genome sequencing data, however, can be quite technical to interpret so if you are interested in using this service to sequence genes associated with autism, you may need a genetic counselor or healthcare professional to help interpret the data.