The largest ever study of Autism genomes has revealed that most siblings who have autism spectrum disorder (ASD) have different autism-linked genes and improves the future outlook of the research and treatment of the disorder.

The MSSNG project, pronounced ‘missing’, is a DNA Testing first. Funded by Autism Speaks, it has used a technique called whole-genome sequencing for approximately 1,000 autism genomes. This information gathered was then uploaded onto the Google Cloud platform, making the de-identified data openly available for global research.

The study leader Dr Stephen Scherer explained how crucial the project is to improve the understanding of Autism genetics. He said: “This is a historic day, as it marks the first time whole genome sequences for autism will be available for research on the MSSNG open-science database… [leading] to personalised treatments for many developmental and medical disorders.”

Robert Ring, chief science officer of Autism Speaks, clarifies this further. He said: “By using the cloud to make data like this openly accessible to researchers around the world, we’re breaking down barriers in a way never done before. As always, our goal at Autism Speaks is to accelerate scientific discovery that will ultimately improve the lives of individuals with autism at home and around the world.”

In total the MSSNG project aims to make at least 10,000 genomes available for research, along with a ‘tool-box’ of state-of-the-art tools to aide analysis.

Changing perceptions of Autism DNA testing

The findings challenge long held presumptions that siblings with the disorder (ASD) were inheriting the same autism-predisposing genes from their parents. Dr Scherer said: “We knew that there were many differences in autism, but our recent findings firmly nail that down. We believe that each child with autism is like a snowflake – unique from the other.”

He added: “This means we should not be looking just for suspected autism-risk genes, which is typically done in diagnostic genetic testing. A full assessment of each individual’s genome is needed to determine how to best use knowledge of genetic factors in personalized autism treatment.”

The MSSNG reports and previous pilot studies from Dr Scherer and his team outline that whole genome sequencing needs to go far beyond traditional testing in order to analyse someone with Autism’s complete DNA sequence.

It may even change the way we speak and write about Autism. Dr Scherer explains that the DNA of affected individuals varies so remarkably that we should alter the terms we use. He said: “We believe a better term to use is ‘the autisms,’ or ‘the autism spectrum disorders’”

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