Date of Award

Spring 2023

Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Crystal Hill-Chapman


The prevalence of Autism Spectrum Disorder (ASD) continues to increase. Numerous genetic syndromes increase the risk of ASD. Professional organizations have published guidelines on the genetic testing recommended for Autistic individuals. However, healthcare providers do not unanimously offer genetic testing or refer for a genetics evaluation. Notably, parents of Autistic individuals express interest in learning about genetic testing as an option for their children.

This study aimed to identify gaps to improve access to genetic evaluations for Autistic individuals and their families. A survey was sent to healthcare providers across the United States that currently see Autistic individuals. We expected to see variable responses from healthcare providers on their perspectives of the role of genetic counseling, the clinical utility of genetic testing for Autistic individuals, and the current published professional guidelines. Of all participants (n=58), 44.1% were developmental and behavioral pediatricians (DBPs), 32.2% were psychologists, and 13.6% were pediatricians. Other fields represented include pediatric/child psychiatry and social work.

Overall, more than half of the healthcare providers indicated that they were comfortable (32.8%) or very comfortable (27.6%) with the professional guidelines about genetic testing for Autistic individuals. Additionally, only 57.1% of providers selected the correct first-tier genetic testing recommended by the American College of Medical Genetics (ACMG) and American Academy of Pediatrics (AAP) guidelines. Most providers believe genetic counselors are an available resource (74.1%); however, not all

are familiar with the full scope of genetic counselors. Due to the gaps identified, there is a need to increase support for healthcare providers routinely seeing Autistic individuals. Maximizing efficient communication between these healthcare providers and genetic counselors can improve ordering appropriate tests and referral rates. Utilizing society/professional organizations and seminars that provide CME credits to communicate practice guidelines will hopefully improve levels of comfort and familiarity. To sustainably provide this support to healthcare providers, the field of genetic counseling must continue to grow. If genetic counselors are an increasingly available resource and communication and interpretation of practice guidelines is improved, then healthcare providers may feel more equipped to provide their patients with increased access to genetic evaluations.


© 2023, Nisha Dhiren Pandya