Genetic Counseling Utilization and Experience Among Caregivers of Children With ASD in the United States

The present study examined caregivers' utilization of and experience with genetic counseling services for their children diagnosed with autism spectrum disorder (ASD).

We surveyed 1063 caregivers from the Simons Foundation Powering Autism Research for Knowledge (SPARK). A logistic regression analysis was conducted in SPSS 29.0 to examine the factors associated with caregivers' utilization of genetic counseling for ASD. Caregivers' self-reported experience with the counseling services they received were analyzed using NVivo 14.0.

Only 7.4% of the caregivers reported having received the genetic counseling services from genetic counselors, and most of the caregivers had limited awareness of genetic counseling services and knowledge of genetic testing. Caregivers' utilization of genetic counseling services was associated with several factors, including whether they had pursued genetic testing, the caregivers' awareness of genetic counseling services, their knowledge of genetic testing, and the presence of co-occurring intellectual disabilities.

These findings underscore the critical role of improving awareness and access to genetic counseling services for families of children with ASD. Additionally, there is a critical need to support caregivers with clear, accessible information about genetic services for ASD. Healthcare providers - particularly pediatricians, developmental specialists, and genetic professionals are encouraged to take a more proactive role in initiating conversations with families about genetic counseling and testing, helping families make informed decisions. Enhancing communication and support around genetic services can better prepare caregivers to navigate the complexities of genetic testing.