Study Backs Genetic Testing For Kids With Autism
Newly available genetic testing may offer answers for about 16 percent of children with autism, according to a new study that’s lending support for more widespread use of the analyses.
With scientists rapidly identifying genes with ties to autism, researchers looked at two types of genetic testing. The results were encouraging, according to Bridget Fernandez, a medical geneticist at Memorial University in Newfoundland who worked on the study published Tuesday in the Journal of the American Medical Association.
Fernandez and her colleagues assessed 258 kids with autism using chromosomal microarray analysis, a relatively new test that’s considered first-tier for those on the spectrum. Meanwhile, 95 of the children also participated in whole-exome sequencing, an even newer test that is just starting to be adopted in regular clinal practice.
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What’s more, the researchers conducted extensive physical exams to determine how many minor physical anomalies the children had since the presence of several can be a sign of an underlying genetic difference.
Chromosomal microarray analysis yielded results for 24 of the children while eight kids received a diagnosis from whole-exome sequencing, the study found. Two received a molecular-based diagnosis from both tests.
Children with the greatest number of minor physical anomalies were the most likely to see results from the genetic tests, Fernandez said.
“Going forward, our hope is that eventually we and others will get to the stage where most of the genetic and genomic variation that underlies susceptibility to ASD will be known and this will allow us to potentially then use genetic testing to make earlier diagnosis,” Fernandez said.
In an accompanying editorial, Judith Miles of University of Missouri Health Care wrote that the study provides “clear guidance.”
“Foremost, the data indicate that physicians responsible for children with ASD should arrange access to a genetic evaluation using techniques that have the best chance of determining an etiologic diagnosis,” Miles wrote.
Realistically, however, Miles said that insurance often does not cover genetic testing and it may be difficult to access a geneticist is some areas of the country. At the very least, she said the current study suggests that a thorough exam to identify physical anomalies may help distinguish children with the highest chance of seeing results from genetic testing.
Identifying the origin of a child’s autism can allow for more appropriate care and better outcomes while also allowing families to participate in genetic counseling, Miles said.