Genetic test for autism is questioned by new study


DNABoston, USA – Last year, in September 2012, a team scientists from University of Melbourne claimed to have identified specific markers to that could be used to design a genetic test for a person’s risk for autism-spectrum disorders.

Benjamin Neale and his team from Massachusetts General Hospital used a larger sample in an attempt to duplicate the original study and the results did not stand up to scrutiny. The MGH scientists checked the 30 single nucleotide polymorphisms, that the Australian study proposed were most important in predicting autism risk, but found no convincing evidence. Neal said.

“The claims in the original manuscript were quite bold. If they were true, it really would have been quite a major advance for the field, with serious ramifications for patients and other risk populations. I think it’s important to ensure that this kind of work is of the highest quality.”

Leonid Kruglyak, a geneticist from the University of California, Los Angeles, was not involved in either study was quoted as saying,

“This is a convincing refutation that calls into question the original results on specific technical grounds, rather than simply a non-replication that leaves a puzzling discrepancy between the two studies.”

More information can be found in The Scientist