Executive summary
New research has linked 230 additional genes to autism spectrum disorder, reinforcing the growing role of exome and genome sequencing in uncovering underlying genetic causes. Earlier comprehensive testing can help identify co-occurring conditions, guide care decisions, and provide families with clearer answers sooner.
230 Newly Identified Genes Expand Our Understanding of Autism
GeneDx data played an instrumental role in the recent connection of 230 additional genes to autism spectrum disorder (ASD), a discovery that was announced at the 2024 American Society of Human Genetics.1 The findings support the notion that as more genes are associated with ASD, the likelihood of exome and genome sequencing getting to the root cause of autism increases.
That exome and genome sequencing can also identify conditions that commonly co-occur with autism, including epilepsy and intellectual disability, is particularly resonant considering that 74% of patients with autism also experience a co-occurring condition.2 Identifying those conditions early—in some cases, even before symptoms appear—can enable early treatment, inform family planning, and connect families with support groups.
For children like Oliver,* those insights could have made all the difference.
Oliver’s case study is not unusual—and yet, it took his family four years to get a diagnosis that an exome test could have provided in a few weeks.
Oliver started missing milestones and showing signs of intellectual developmental delays at just 15 months, and still had trouble standing and speaking at age two. By that time, his parents had also started to suspect autism based on his poor eye contact and lack of social behavior. Although he received autism, Duane’s syndrome, and myopia diagnoses shortly thereafter, his pediatrician only ordered FMR1 and chromosomal microarray testing—both of which were reported as normal.
The Importance of Identifying Co-Occurring Conditions in Autism
Compared to other genetic testing options for neurodevelopmental disorders, exome testing is more likely to deliver a genetic diagnosis for patients with autism.
A Shorter Diagnostic Journey for Families
Parents of children with undiagnosed conditions like Oliver experience an overwhelming number of challenges. On average, a child with neurodevelopmental disorders:
In addition to informing treatment and care, a genetic diagnosis can also give parents the peace of mind that comes from understanding the root cause behind their child’s symptoms.
How a Genetic Diagnosis Can Change Care and Outcomes
- helping families understand what to expect as a child grows and develops.
- leading to changes in the child’s medical care, such as avoiding, stopping, or initiating tailored interventions (such as medications).
- helping to secure funding for services, such as medical therapies or school programs.
- empowering families by connecting them with gene-related support groups.
Why Comprehensive Genomic Sequencing Is Recommended by Guidelines
Stories like Oliver’s reiterate why guidelines recommend exome as a first-line test for patients with conditions that often co-occur with ASD. The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome sequencing as a first-tier test for individuals with developmental delay, intellectual disability, and congenital anomalies. Following these guidelines may be the key to identifying a diagnosis sooner for children like Oliver.
