Scientists who analyzed genetic data from more than 18,000 families affected by autism uncovered a pattern they weren't expecting. As they examined how inherited genetic risk was passed from parents to children, one finding repeatedly emerged, raising fresh questions about how autism risk is measured across different populations. The research, published in Nature Genetics, analyzed 18,383 autism spectrum disorder (ASD) case-parent trios from the Simons Foundation Powering Autism Research for Knowledge (SPARK) autism research project and developed a new framework for studying how inherited genetic risk, parental genetics and environmental factors contribute to autism.
ASD is a neurodevelopmental condition that affects how people communicate, interact and experience the world around them. Centers for Disease Control and Prevention, an estimated one in 31 children in the United States has been identified with autism. Researchers found that genetic scores designed to estimate inherited autism risk showed strong associations in families of European ancestry, but their performance gradually declined as genetic distance from the original European training population increased.
The team identified a clear linear relationship: the further an individual's ancestry was from the population used to develop the autism risk score, the less predictive that score became. The finding held across more than 18,000 families representing a broad range of ancestries. Lead author Ziqiao Wang, an assistant professor in the Department of Genome Sciences at the University of Virginia School of Medicine, said that improving the accuracy of genetic tools across different ancestry groups will require much larger and more diverse autism studies that include participants from a wider range of populations.
Scientists are increasingly exploring whether these scores could eventually help identify people at elevated risk of diseases and conditions. The researchers also confirmed that inherited autism-related genetic variants contribute to ASD risk across populations. In families of European ancestry, the autism polygenic score was associated with a 28 percent higher relative risk of autism per standard-unit increase in the score.
Significant associations were also observed in some other ancestry groups. Beyond autism-specific genetic risk, the study found evidence that genetic scores linked to several neurocognitive and psychiatric traits, including schizophrenia, ADHD, insomnia and educational attainment, were also associated with autism risk. The findings may raise questions about whether genetic scores could someday help identify children at increased likelihood of autism, but Wang cautioned that the science is not yet ready for clinical use.
Previous research has demonstrated the potential for polygenic risk scores to help identify people at increased risk of certain diseases, including prostate cancer and cardiovascular disease, before symptoms appear, she explained. Estimation of direct and indirect polygenic effects and gene–environment interactions using polygenic scores in case–parent trio studies. Nat Genet 58, 1237–1247 (2026). https://doi.org/10.1038/s41588-026-02601-2.
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