Development of an Educational Resource on Genetic Testing for Autism for Healthcare Providers and the Autistic Community
Education and Research Strategies
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Primary Categories:
- General Education
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Secondary Categories:
- General Education
Introduction:
Autism is a neurodevelopmental condition that, as of 2023, is estimated to affect approximately 1 in 36 children in the US. The heritability of autism is estimated to be as high as 91%. Although autism can be reliably diagnosed by age 2, the median age at diagnosis remains at 4.2 years. The delay in diagnosis combined with the wide variability of prevalence and age of diagnosis by state serve as is one of many indicators that the process of receiving a diagnosis can often times be difficult and complex. In the United States, obtaining a diagnosis is necessary for gaining access to support within the healthcare systems. Early intervention (e.g., sensory therapies) is most likely to produce long-lasting effects for autistic individuals. Thus, accelerating the diagnostic process for autism can aid autistic people by facilitating earlier access to treatment and support. Genetic testing at the time of autism diagnosis is currently recommended by the American Academy of Pediatrics and the American College of Medical Genetics, but uptake rates continue to remain quite low. Although genetic testing cannot diagnose autism, it can provide additional evidence of diagnosis, potentially help with identification of other possible co-occurring conditions, and direct to more personalized care. Currently, genetic testing has a 20-25% yield for variants associated with autism.
Previous work from our laboratory found that healthcare providers (HCPs) involved in the autism diagnosis process cite a lack of specific genetics education as one of the biggest barriers to making referrals for genetic testing. Specifically, they wished to learn more about the utility of genetic testing and how to discuss genetics with families. This finding highlights the need for further education for providers on accessibility issues, autism genetics, and genetic testing during the autism diagnostic process. Therefore, we created three educational intervention videos with content for HCPs, autistic individuals, caregivers of autistic individuals, and the general population.
Methods:
We implemented a mixed methods design to assess the utility, relevance, and likelihood of recommending these educational resources in a population of psychologists and pediatricians. Next, using the online platform Prolific, we are assessing those same variables in a wider sample of 100 HCPs (including but not exclusive to psychologists and pediatricians). In our survey design, we also included measures to assess attitudes toward autism and genetic testing, as well as a measure of genetic literacy. Finally, we are consulting members of the autistic community to promote inclusivity by asking a panel of 100 autistic individuals to rate the videos’ relevance to their experiences and educational needs.
Results:
In two feedback rounds during the pilot phase, clinicians who regularly diagnose autism rated the videos as relevant, useful, and worth recommending to colleagues, with the third video on genetic testing FAQs scoring the highest. The provider comments have been used to edit and update the videos prior to the survey phase.
Conclusion:
When combined, our findings will provide more insight into knowledge and attitudes of all parties and a better understanding of the role of genetic testing in a quickly evolving community. Our investigation deepened the understanding of attitudes held by healthcare providers (HCPs) and autistic individuals toward genetic testing and the communication of autism genetics. These insights underscore the necessity for targeted educational initiatives that are also culturally informed and sensitive. Improving education and awareness for HCPs in particular is essential to elevating the standard of care and foster informed decision-making in clinical practice.
Autism is a neurodevelopmental condition that, as of 2023, is estimated to affect approximately 1 in 36 children in the US. The heritability of autism is estimated to be as high as 91%. Although autism can be reliably diagnosed by age 2, the median age at diagnosis remains at 4.2 years. The delay in diagnosis combined with the wide variability of prevalence and age of diagnosis by state serve as is one of many indicators that the process of receiving a diagnosis can often times be difficult and complex. In the United States, obtaining a diagnosis is necessary for gaining access to support within the healthcare systems. Early intervention (e.g., sensory therapies) is most likely to produce long-lasting effects for autistic individuals. Thus, accelerating the diagnostic process for autism can aid autistic people by facilitating earlier access to treatment and support. Genetic testing at the time of autism diagnosis is currently recommended by the American Academy of Pediatrics and the American College of Medical Genetics, but uptake rates continue to remain quite low. Although genetic testing cannot diagnose autism, it can provide additional evidence of diagnosis, potentially help with identification of other possible co-occurring conditions, and direct to more personalized care. Currently, genetic testing has a 20-25% yield for variants associated with autism.
Previous work from our laboratory found that healthcare providers (HCPs) involved in the autism diagnosis process cite a lack of specific genetics education as one of the biggest barriers to making referrals for genetic testing. Specifically, they wished to learn more about the utility of genetic testing and how to discuss genetics with families. This finding highlights the need for further education for providers on accessibility issues, autism genetics, and genetic testing during the autism diagnostic process. Therefore, we created three educational intervention videos with content for HCPs, autistic individuals, caregivers of autistic individuals, and the general population.
Methods:
We implemented a mixed methods design to assess the utility, relevance, and likelihood of recommending these educational resources in a population of psychologists and pediatricians. Next, using the online platform Prolific, we are assessing those same variables in a wider sample of 100 HCPs (including but not exclusive to psychologists and pediatricians). In our survey design, we also included measures to assess attitudes toward autism and genetic testing, as well as a measure of genetic literacy. Finally, we are consulting members of the autistic community to promote inclusivity by asking a panel of 100 autistic individuals to rate the videos’ relevance to their experiences and educational needs.
Results:
In two feedback rounds during the pilot phase, clinicians who regularly diagnose autism rated the videos as relevant, useful, and worth recommending to colleagues, with the third video on genetic testing FAQs scoring the highest. The provider comments have been used to edit and update the videos prior to the survey phase.
Conclusion:
When combined, our findings will provide more insight into knowledge and attitudes of all parties and a better understanding of the role of genetic testing in a quickly evolving community. Our investigation deepened the understanding of attitudes held by healthcare providers (HCPs) and autistic individuals toward genetic testing and the communication of autism genetics. These insights underscore the necessity for targeted educational initiatives that are also culturally informed and sensitive. Improving education and awareness for HCPs in particular is essential to elevating the standard of care and foster informed decision-making in clinical practice.