Study of More Than 18,000 Patients Finds Exome Sequencing Delivers Higher Diagnostic Rates for Autism Spectrum Disorders

-- Study also identifies high number of genes not previously connected with autism spectrum disorders (ASD)--

GAITHERSBURG, Md., April 26, 2022 /PRNewswire/ -- GeneDx, LLC, a leader in genomic analysis, today unveiled new data demonstrating positive outcomes of exome analysis for individuals with autism spectrum disorders (ASD), supporting the use of a broader genetic testing approach to diagnose ASD. This retrospective study is one of the few to examine the genetic basis of autism and current guidelines around screening and testing and is among the largest studies of genetic testing in ASD.

The study, presented in a poster session at the American Academy of Neurology (AAN) Annual Meeting, evaluated exome analysis for individuals with ASD against current testing methods and shed light on genes not previously associated with ASD. Results demonstrate that exome analysis provides higher diagnostic rates of 7.9-21.0% and shorter diagnosis wait times than traditional testing strategies, including Fragile X (FMR1) and array CGH. Though nearly 90% of the 18,911 individuals with ASD who participated in the study had at least one prior negative genetic test, researchers observed a high positive rate of exome analysis, suggesting prior testing contributed to the delay in molecular diagnosis. The results suggest that exome analysis should precede FMR1 and array CGH testing, which is also supported by the superior diagnostic yield of exome sequencing over FMR1 and CGH testing found in the medical literature.

Importantly, this study revealed a high number of emerging genes not previously connected to autism. Initial analysis identified 1,137 emerging genes,113 of which were upgraded to disease-causing starting in 2015. Moreover, 60% of genes associated with ASD identified in this study were not found in the Simon Foundation Autism Research Initiative (SFARI) Gene online database – an evolving resource for the autism research community centered on genes implicated in autism susceptibility. This further supports the use of exome analysis for the discovery and understanding of genes associated with ASD.

"Use of exome testing as a front-line test will help ensure more patients and clinicians have a more complete diagnosis sooner," said Paul Kruszka, M.D., F.A.C.M.G., chief medical officer at GeneDx. "The data reinforce that we need to update the standard of care for these patients to choose exome sequencing over panels to provide more children with a diagnosis. We will work tirelessly to help ensure all patients have access to exome, which is a more definitive tool."

GeneDx's database of more than 350,000 clinical exomes has been a major driver of discovery. This dataset, supported by carefully annotated and structured clinical information, has turned GeneDx into a key driver in understanding gene-disease relationships. Today roughly one-quarter of the clinically actionable findings provided to patients come from discoveries first made at GeneDx.

In 2021, the U.S. Centers for Disease Control (CDC) reported approximately 1 in 44 children is diagnosed with autism, and boys are four times more likely to be diagnosed than girls. Most children are diagnosed after age four, although early diagnosis and intervention offers the best opportunities to help support children's development. Research indicates genetics influence the vast majority of cases.

GeneDx, LLC, is a global leader in genomics, providing testing to patients and their families worldwide. Originally founded by scientists from the National Institutes of Health, GeneDx offers a world-renowned clinical genomics program with particular expertise in rare and ultra-rare genetic disorders. In addition to its market-leading exome sequencing service, GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. To learn more, please visit http://www.genedx.com.

CONTACT: Julie McKeough, [email protected]

SOURCE GeneDx, Inc.