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Date of Award


Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Laura Hercher, MS, CGC

Second Advisor

Holly Peay, PhD, MS, CGC


Guidelines from the American Academy of Pediatrics and the American College of Medical Genetics and Genomics recommend genetic testing for individuals with Autism Spectrum Disorder (ASD) as part of their medical workup. While previous studies explored parental and caregiver experiences in the pursuit of genetic testing for the affected individual, to our knowledge, there is limited research in the usefulness of genetic testing for ASD and other neurodevelopmental disorders in terms of cascade testing, reproductive decision-making, medical management and care. In our research, a survey was submitted to parents and caregivers of N = 645 participants selected from the Simons Searchlight database. Quantitative Analysis of the 337 respondents showed an increased uptake of utility and overall satisfaction after a genetic finding, despite the challenges and concerns surrounding genetic testing and the potential implications that a genetic finding for ASD and other neurodevelopmental conditions may have. Notably, respondents overwhelmingly did not regret getting genetic testing done and found an ASD genetic finding to be helpful.