How an expert panel evaluates genes for autism genetic tests

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22 Jul 2022, 9:17 am

Spectrum

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Autism geneticists seem to agree on one thing: There are hundreds of genes potentially linked to the condition. But few agree on which ones should be added to the gene lists or “panels” for the commercial genetic tests that some clinicians rely on.

To sort through the jumble of information, some of the scientists behind the Clinical Genome Resource (ClinGen) — a U.S. federal program for evaluating clinical genetic evidence — formed a group in 2018 called the Intellectual Disability and Autism Gene Curation Expert Panel (GCEP). This group is tasked with keeping researchers, clinicians and laboratories informed about whether current evidence supports clinical testing for any given gene.

The GCEP started by scrutinizing a set of 156 genes used in more than one commercial test for autism or intellectual disability. In May, the group reported that 117 — 75 percent — reach its evidence bar for a definitive link to one of the conditions, but 22 lacked sufficient evidence for clinical testing; the remaining 17 had “moderate” evidence — enough to support their inclusion on a test, but still in need of more data.

The group faces an almost Sisyphean task: At its current pace of four gene assessments per month, on average, the group would need more than six years to probe the 318 genes still on its list. And new genes — and new data for old genes — emerge all the time.

Spectrum spoke with panel co-chair Christian Schaaf and coordinator Erin Rooney Riggs about the challenges the team faces and the importance of constantly reevaluating an ever-shifting genetic landscape.


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Professionally Identified and joined WP August 26, 2013
DSM 5: Autism Spectrum Disorder, DSM IV: Aspergers Moderate Severity

“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman