Related Experiment Video
Updated: May 24, 2026
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation
Kimberly Vande Wydeven1, Andrea Kwan, Antonio Y Hardan
1Department of Genetics, Stanford University, Stanford, CA, USA.
Insights
Many families of children with autism spectrum disorder (ASD) underutilize genetics services due to lack of awareness and provider recommendations. Increasing awareness among parents and healthcare providers is crucial for better access to genetic evaluations.
Area of Science:
- Genetics
- Developmental Pediatrics
- Healthcare Access
Background:
- Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component.
- Genetics services play a crucial role in diagnosing underlying causes and informing family planning for children with ASD.
- Underutilization of these vital services by families affected by ASD remains a significant concern.
Purpose of the Study:
- To identify factors contributing to the underuse of genetics services among families of children with autism spectrum disorder (ASD).
- To understand the awareness and utilization patterns of genetic evaluations and testing in this population.
Main Methods:
- A survey-based study was conducted with 155 parents and/or guardians of children diagnosed with ASD.
- Data collected included demographics, prior genetics service utilization, and reasons for non-utilization.
- Statistical analysis identified factors associated with seeking or not seeking genetics services.
Main Results:
- Only 20% of children with ASD had seen a genetics professional, and 32% had undergone genetic testing.
- Factors associated with higher genetics service utilization included primary provider referral, parental requests for referral, and awareness of others with genetic ASD causes.
- Families not utilizing services reported lower awareness of availability and utility, and less frequent provider recommendations.
Conclusions:
- Awareness of genetics services' availability and utility is low among families of children with ASD who have not accessed these services.
- Primary care providers play a key role in recommending genetics evaluations, but this is often lacking.
- Educational initiatives targeting both healthcare providers and families are needed to improve the uptake of genetics services for ASD.
Abstract:
Reasons for the underutilization of genetics services by families of children with autism spectrum disorders (ASD) are not well understood. We report the identification of factors associated with this underuse. Survey-based study of parents and/or guardians of children with ASD. One hundred fifty-five families completed the questionnaire. Thirty-one of 155 (20%) children had seen a genetics professional. Forty-nine of 154 (32%) children had undergone genetic testing. Parents whose child saw a genetics professional were more likely to 1) Have a primary provider refer for or suggest a genetics evaluation 2) Have asked for a referral, and/or 3) Know another person with a genetic cause of ASD. amilies of children with ASD who have not received genetics services are less aware of their availability and utility. They are also less likely to have their provider recommend a clinical genetics evaluation. Efforts should be taken to increase awareness of both health providers and parents regarding the usefulness of genetics services for ASD.
Related Concept Videos
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:23Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
01:35Pedigree Analysis
01:26Modeling in Therapy
Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in situations...