Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism.
Fiana Ní Ghrálaigh, Ellen McCarthy, Daniel N Murphy and 2 others
PMID 34994928WHAT IT FOUND
Commercial gene panels for autism rarely find a cause.
Most detect a genetic variant in fewer than 3% of cases. A negative panel result does not rule out a genetic basis for autism, as the panels miss many relevant genes.
Key findings
01The diagnostic yield of commercial autism gene panels ranges from 0.22% to 10.02%, with most panels detecting a genetic cause in fewer than 3% of individuals.
02A negative result on a targeted gene panel does not exclude a genetic cause, as the panels are not extensive enough to cover the complex genetic architecture of autism.
03Diagnostic yield correlates positively with the number of genes tested, indicating that larger panels are more likely to identify a clinically relevant variant.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study estimates yield based on variants found in a specific research cohort (SPARK), which may not perfectly represent the general clinical population. The analysis assumes that any variant in a gene on the panel would be detected, which may not account for technical limitations in sequencing specific regions.
Declared interests
Funded by Science Foundation Ireland. No other conflicts of interest are explicitly declared in the provided text.
The easy way to misread this
Do not interpret a negative commercial gene panel as evidence that a child's autism is not genetic. The panels have very low diagnostic yield and miss many causative variants, so a negative result is expected in the majority of cases.