Diagnosing autism is a complex and often inexact science that can involve multiple rounds of behavioral testing.
But a new study has found that two genetic tests may help doctors and parents identify certain genetic mutations that are linked to the disorder, providing a clear molecular diagnosis.
Researchers believe that the information could potentially help parents who have one child with autism spectrum disorder identify whether any future children are at increased risk, and also lead to the development of more personalized treatment plans.
In the new study, published in the Journal of the American Medical Association (JAMA) on Tuesday, a team of investigators with the Hospital for Sick Children in Toronto, Canada, performed two relatively new genetic tests on a group of 258 children who had already been diagnosed with autism to better gauge how capable the tests are at spotting genetic mutations that may contribute to autism.Note the words could and may. Practical applications of this research are years away, at best.
Dennis Thompson reports at Health Day:
[Senior author Dr. Bridget] Fernandez expects that the effectiveness of the tests will increase over time, as researchers identify more genes related to autism. "There are still things out there that we don't know to look for," she said.
She hopes that knowledge of the genetics behind autism will lead to medications that target those particular faulty genetic pathways. In that case, these tests could help doctors prescribe appropriately targeted drugs to autistic children.
Years down the line, the tests might also be useful in screening siblings of children diagnosed with autism, to see whether they might develop problems related to autism, she said.
But at this point "the tests aren't cheap," Fernandez said. Whole-exome sequencing can run from $3,000 to $5,000, while chromosomal microarray analysis costs about $1,500, she said
