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Most parents wanted genetic testing for autism in children, if test existed
Eighty percent of parents who had at least one child with autism spectrum disorder reported that they were interested in a genetic assessment of the disorder in a younger, undiagnosed sibling — if such a test was available to them — according to a new report published in Clinical Pediatrics.
“The majority of parents surveyed said they would be interested in having their child tested if a genetic test was available that could identify ASD risk — even if it could not confirm a diagnosis — in order to facilitate an earlier diagnosis and access to therapies known to make a positive impact on their child’s development,” study researcher Elizabeth Couchon, MS, a licensed genetic counselor and medical sciences liaison for IntegraGen Inc., said in a press release.
For the study, 162 Internet surveys were completed anonymously by parents who had at least one child with ASD. The researchers wanted to better understand parents’ experiences with the ASD diagnostic process.
Of those parents who said they wanted genetic testing for a younger, undiagnosed sibling of a child with ASD, 85% indicated that their anxiety level would have decreased based on the results of such a test. Among those who did not favor genetic testing, 12% cited concerns about increasing anxiety, 12% worried their children would be labeled based on the test results, and 8% reported a lack of awareness of what to do next after the test had been completed.
Results also showed that 72% of parents said they felt there was a delay in the diagnosis of ASD in their children. Most parents reported that they believed genetic factors were responsible for the development of ASD in their children; 82.1% surveyed said it was a combination of genetic and environmental factors, and 11.9% indicated that ASD was almost entirely the result of genetic factors.
“Parents who have one child with ASD are often anxious about younger siblings since we know there is a genetic component and that ASD runs in families,” study researcher Antonio Hardan, MD, a member of IntegraGen’s advisory board, said. “These parents often know the signs and symptoms of ASD, and typically recognize issues with their younger children’s development. Many also know earlier diagnosis and intervention leads to better outcomes, so the availability of an early screening tool that could aid with early diagnosis would relieve some of their anxiety.”
Disclosure: Couchon is an employee of IntegraGen, Narcisa received compensation from IntegraGen and Hardan is a paid consultant to IntegraGen. See the study for a full list of financial disclosures.
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This interesting article discussed the results of a survey of 162 parents with at least one child with ASD and a younger, undiagnosed child, regarding their willingness to pursue genetic testing that would provide additional information about risk for ASD in the undiagnosed child. The parents who responded to the survey tended to be well educated and primarily Caucasian; 72% indicated that they would wish to pursue such a test and felt it would decrease anxiety to have these results. Many parents expressed frustration regarding late diagnosis, with a mean age of diagnosis for ASD of 56.6 months.
A number of issues are raised by this article, including the utility of such a genetic test. The test is by no means definitive; should the DNA results indicate the presence of combinations of single nucleotide polymorphisms that can be associated with ASD, the test only predicts risk above or below baseline recurrence risk. Perhaps the most striking finding of this survey was the perceived delay in diagnosis of a second child by parents; there was no substantial difference in mean reported age of diagnosis of first child from second child with ASD. Many parents reported that their pediatrician took a “wait and see” attitude despite parent reports of developmental concerns starting at a mean 21.4 months. A recent prospective study (Ozonoff S. Pediatrics. 2011;128:e488-495) showed the recurrence risk for a sibling of a child with ASD to be 18.9%, higher for male siblings (25.9%) and lower for female siblings (9.6%). This risk alone should warrant close surveillance of younger siblings with early referral for diagnosis and intervention at the first sign of developmental problems. Pediatricians and other primary care physicians need to work with families and early child educators to assure that parental concerns and anxiety are addressed and that each child is given the opportunity for optimal development through intensive, evidence-based interventions.
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