Development of an Interactive Patient Education Tool for Genetic Testing in Autism Spectrum Disorder

  • Maurita Hung
  • Michael Corrin
  • Shelley Wall
  • Ny Hoang


Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a prevalence of 1 in 68 children. The cause of the disorder is unknown, but research suggests that it involves a combination of genetic and environmental factors. Due to recent advances in sequencing technology, next generation sequencing is being incorporated into clinical practices, enabling researchers to obtain genetic data from ASD patients and elucidate the genetic variants that contribute to the disorder. Ultimately, this may lead to earlier diagnoses and interventions for future generations. The integration of next generation sequencing into clinical practices also benefits patients, because it can be used to identify other fatal genetic disorders associated with ASD and to advise parents on recurrence risk. Despite the benefits of genetic testing in the ASD field, there remain two communication gaps between families of patients affected by ASD and genetic counselors. First, there are few patient education resources on why patients with ASD should get genetic testing, resulting in a lack of awareness. The second communication gap is the challenge of explaining complex genomic results to families of patients who choose to undergo genetic testing. This master’s research project aims to bridge both communication gaps through the implementation of an interactive web-based resource. With the use of visual analogies and storytelling techniques, the tool will aid in knowledge translation and improve society’s understanding of genetic testing in the field of ASD.

How to Cite
Hung, M., Corrin, M., Wall, S., & Hoang, N. (2019). Development of an Interactive Patient Education Tool for Genetic Testing in Autism Spectrum Disorder. Journal of Biocommunication, 43(2).
Published Abstracts - Poster Presentations