Genome sequencing identifies the genetic origin of autism in ~20% individuals having a diagnosis. Knowing the genetic factors involved can end long diagnostic ‘odysseys’ seeking causation and as well help doctors tailor care and test for other health conditions. Some families choose not to pursue testing, possibly due to a lack of real-life examples of the value. Here we discuss the findings from 100 families enrolled in a research study using genome sequencing where a genetic finding helped the family including through genetic counselling benefits. This study provides concrete examples of how genetic results can benefit the autism community. (By Professor Stephen W. Scherer, https://jmg.bmj.com/content/early/2025/04/01/jmg-2024-110463 )

Some of the authors from left to right: Ege Sarikaya, Ny Hoang, Thanuja Selvanayagam, Christian Marshall, Stephen Scherer