Slippery SNPs
About a year ago, researchers in Australia published a study with an incredible claim: A new genetic test, screening for 237 common genetic markers, could predict autism with more than 70 percent accuracy.
The study, published in Molecular Psychiatry, was widely reported in the popular press with its claims largely unquestioned. But as SFARI.org reported at the time, some experts were strongly skeptical.
For one thing, larger studies had looked for common variants, known as single nucleotide polymorphisms, or SNPs, that up the risk of autism — and had come up short.
“The data look interesting but really need to be tested independently before I would believe the results were scientifically sound,” geneticist Stephen Scherer, director of the Centre for Applied Genomics at the Hospital for Sick Children in Toronto, told me at the time. “There is much room for error, both in study design and interpretation, and too much at stake here to get this wrong.”
As it turns out, the study was indeed wrong. Last week, Benjamin Neale and his colleagues from Massachusetts General Hospital reported in the same journal that the 237-marker panel does not predict autism risk — not by a long shot.
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