Parent Perspectives Towards Genetic and Epigenetic Testing for Autism Spectrum Disorder.
Kayla E Wagner, Jennifer B McCormick, Sarah Barns and 3 others
PMID 30903561WHAT IT FOUND
Parents of children with and without developmental delays overwhelmingly want a molecular test for autism, preferring saliva samples and early results.
However, only 19% accurately understood the difference between genetics and epigenetics, highlighting the need for professional interpretation.
Key findings
01Nearly all parents (96%) were interested in learning their child's ASD risk from genetic testing, and 95% for epigenetic testing, with no significant difference between parents of children with ASD, developmental delay, or typical development.
02Despite high interest, only 19% of parents correctly identified the scientific difference between genetics and epigenetics after reading an informational handout.
03Parents strongly preferred saliva (92%) as the biofluid for testing, and 71% desired results by 12 months of age or younger, which is earlier than current behavioral diagnostic standards.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study only included parents who already agreed to participate in genomic research, which likely creates a positive bias toward testing and underestimates concerns. Participants were recruited from specific academic centers in New York and Pennsylvania, so results may not reflect views in other regions. The sample was highly educated (75% had some college or more), which may affect how parents interpret ambiguous results. The group of parents with children with non-ASD developmental delay was small (n=39), making comparisons in this subgroup less reliable.
Declared interests
The study was funded by the National Institute of Mental Health and the Kirson-Kolodner-Fedder Charitable Fund. No other conflicts of interest were declared.
The easy way to misread this
Do not assume parents understand what epigenetic testing actually measures. While interest is high, only 19% correctly distinguished epigenetics from genetics, meaning parents may have unrealistic expectations about what a 'molecular diagnosis' reveals about their child's condition.