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New Genetic Test Predicts Risk for Autism

Researchers identify gene markers for ASD (Sept. 12)

A team of Australian researchers, led by the University of Melbourne, has developed a genetic test that is able to predict the risk of developing autism spectrum disorder (ASD).

Autism affects approximately one in 150 births and is characterized by abnormal social interaction, impaired communication, and repetitive behaviors. The new test correctly predicted ASD with more than 70% accuracy in people of central European descent. Ongoing validation tests are continuing, including the development of accurate testing for other ethnic groups.

The findings were published on September 12 in Molecular Psychiatry.

Researchers have long sought a genetic cause of ASD, and many genes have been implicated in the condition, but no single gene has been adequate for determining risk. Using U.S. data from 3,346 individuals with ASD and 4,165 of their relatives from the Autism Genetic Resource Exchange (AGRE) and the Simons Foundation Autism Research Initiative (SFARI), the researchers identified 237 genetic markers in 146 genes and related cellular pathways that either contribute to or protect an individual from developing ASD.

The discovery of the combination of contributing and protective gene markers and their interaction has helped researchers to develop a promising predictive ASD test. The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher is the individual risk.

The next step is to further assess the accuracy of the test by monitoring children who are not yet diagnosed over an extended study period.

For more information, visit the University of Melbourne Web site.

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