Genetic testing for autism can guide interventions

Genetic testing can guide interventions for autism and its co-occurring conditions

By Dean Hartley
Dean Hartley

Research shows that more than half of autistic people have four or more co-occurring conditions. Many of these conditions have significant effects on a person’s health and well-being, so it’s important for researchers to understand their biological causes and how they interact with autism.

Genetic testing has opened the door to deeper understanding of autism’s co-occurring conditions, allowing for early detection and better interventions. In this blog post, Dean Hartley, PhD., senior director of genetic discovery and translational science at Autism Speaks, shares how genetic testing can help people with autism and how Autism Speaks is working to advance the field.

What are the benefits of genetic testing for people with autism?

Genetic testing will not give answers to everyone, but for many people, it can help explain the possible causes of autism and reveal future medical issues caused by co-occurring conditions. It can also help guide therapies or care plans to help individuals cope with their symptoms and improve quality of life.

Genetic testing can identify genes that are involved in co-occurring conditions associated with ASD. Epilepsy is a good example of a co-occurring condition that is linked to known autism genes and seen in about 30% of autistic individuals. Other co-occurring issues include depression, ADHD, GI issues, sleep problems, schizophrenia, anxiety and epilepsy; more can be learned on the Autism Speaks website.

Additionally, genetic testing can be a life-saving screening tool. Knowing that you have a genetic mutation linked to a serious illness, like epilepsy, cancer or other health condition, can help you stay healthy and thrive. In the case of epilepsy, knowing you are at high risk may help you avoid certain activities that can be problematic with epilepsy, such as driving.

We recommend that anyone with an autism diagnosis receive genetic testing. Unfortunately, fewer than half of people with autism currently undergo testing.

How can autistic people and their families seek out genetic testing?

If you seek out genetic testing, we do not recommend directly soliciting a company. A medical specialist or genetic counselor is best qualified to help you understand beforehand what the test will or will not provide and interpret your results. We suggest you start with the provider who diagnosed you or your child with autism. That person should be able to refer you to a neurodevelopmental pediatrician, a medical geneticist or a clinic that specializes in autism or developmental disorders and has experience in genetic testing.

Because genetic testing is rapidly evolving, it is important to stay in touch with your genetic testing provider. There may be updates to genetic tests or what the results can tell you. A DNA change not detected by an earlier test or one that we didn’t know was linked to autism could become important for you in the future. Your specialist or genetic counselor can help guide you as new tests or information become available. As insurance coverage changes and new standards are adopted, you may be covered for these new tests.

Families can also join a genetics research study to help researchers find new genetic variations linked to autism that will help more people in the future. One example is the SPARK study being conducted by the Simons Foundation. Other studies are listed at Other helpful genetic information can be found at the National Institutes of Health’s Genetic Home Reference tool.

What is Autism Speaks doing to support genetic research into autism and co-occurring conditions?

Autism Speaks is working towards advancing the technology used for genetic testing. Microarray testing is the most commonly used practice, but it only covers a small portion of our six billion letters of DNA and only finds autism-linked genetic variations in 8 to 10 percent of people who undergo testing.

Autism Speaks has been advocating to move to newer genetic testing technologies, such as whole exome sequencing (WES). This test looks at a portion of genetic code called the exome that includes some 20,000 genes, or about 2 percent of your DNA. It can reveal genetic variants linked to ASD and its co-occurring conditions in about 15 to 30 percent of individuals.

Autism Speaks has also been supporting the Autism Genetics Resource Exchange (AGRE) and MSSNG database, two programs aimed at understanding the genetics of autism. The MSSNG research project is using the latest technology, a method called whole genome sequencing (WGS) that looks at about 99 percent of your DNA.

These advanced techniques have allowed us to find many new DNA changes, but we don’t yet have enough information to tie these genetic mutations to autism or a specific co-occurring condition. However, with more studies and larger study populations, future research findings will define what specific DNA changes mean for an individual.

How is Autism Speaks advancing our understanding of the diverse nature of autism?

Experts now realize that there are multiple subtypes of autism, and to deliver effective, personalized interventions to individuals, we will need to identify and understand these subtypes. Unfortunately, we currently do not have enough data in the autism field to identify the subtypes of autism. Collecting a greater diversity of clinical and biological data can help us categorize individuals into appropriate subtypes and understand how their biology drives their autism profile.

To accomplish this goal, Autism Speaks has launched the PATH to Discovery program. This program will build upon genetic discoveries and identify other biological changes that may be responsible for the diverse nature of autism and its different co-occurring conditions. We hope to understand the different biological pathways that govern the diversity of autism, allowing for more personalized healthcare that best fits the needs and goals of each autistic individual.

What is Autism Speaks’ position on eugenics?

Autism Speaks does not support eugenics. Our research in the genomics field (via AGRE, MSSNG and PATH to Discovery) exists to help advance the field so that ultimately, autistic people can access personalized, precision health care that will allow them to lead their best lives.

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