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The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and
Aaron D Besterman1,2,3,4, Joshua Sadik4, Michael J Enenbach1,2,4
1Department of Psychiatry, UCLA Division of Child and Adolescent Psychiatry, Los Angeles, California, USA.
Insights
Medical genetics education for child and adolescent psychiatry fellows increased inpatient genetic testing rates for autism spectrum disorder. While improving access for underrepresented minorities, ensuring outpatient follow-up remains a challenge.
Area of Science:
- Medical Genetics
- Child and Adolescent Psychiatry
- Neurodevelopmental Disorders
Background:
- Diagnostic genetic testing is crucial for children with autism spectrum disorder (ASD) and other neurodevelopmental disorders.
- Integrating genetic testing into inpatient child and adolescent psychiatry (CAP) services can enhance accessibility.
- Current genetic testing rates and diagnostic yields in CAP services require evaluation.
Purpose of the Study:
- To assess the impact of medical genetics education on CAP fellows regarding genetic testing rates and diagnostic yield.
- To compare the demographics of patients receiving genetic testing on CAP services versus other clinical services.
- To evaluate the rates of outpatient genetics follow-up post-discharge for patients tested on CAP services.
Main Methods:
- A retrospective study comparing genetic testing rates and diagnostic yield pre- and post-medical genetics education for CAP fellows.
- Demographic comparison of patients tested on CAP services versus other clinical services.
- Assessment of outpatient genetics follow-up rates post-discharge.
Main Results:
- Genetic testing rates on the inpatient CAP service increased from 1.6% to 10.7% after the educational intervention.
- Genetic risk factors were identified in 4.3% of inpatients, with 34.8% having variants of unknown significance.
- Patients tested on CAP services included a higher proportion of underrepresented minorities (39.1%) compared to other services (7.7%), but 43.5% were lost to outpatient follow-up.
Conclusions:
- Medical genetics education for CAP fellows is feasible and can improve genetic testing rates in inpatient settings.
- Inpatient genetic testing may identify variants of unknown significance, necessitating careful interpretation and follow-up.
- CAP services may improve access to genetic testing for underrepresented minorities, but challenges in ensuring outpatient follow-up persist.
Abstract:
Diagnostic genetic testing is recommended for children with autism spectrum disorder and other neurodevelopmental disorders. One approach to improve access to genetic testing is to offer it on the inpatient child and adolescent psychiatry (CAP) service. We provided medical genetics education to CAP fellows and retrospectively compared the genetic testing rates and diagnostic yield pre- and post-education. We compared demographics to similar patients who received testing on other clinical services and assessed rates of outpatient genetics follow-up post-discharge. The genetic testing rate on the inpatient CAP service was 1.6% before the educational intervention and 10.7% afterward. Genetic risk factors were identified in 4.3% of inpatients. However, 34.8% had variants of unknown significance. 39.1% of patients who received genetic testing while inpatients were underrepresented minorities, compared to 7.7% of inpatients who received genetic testing from other clinical services. 43.5% of patients were lost to outpatient genetics follow-up. We have demonstrated that it is feasible to provide medical genetics education to CAP fellows on an inpatient service, which may improve genetic testing rates. This preliminary evidence also suggests that genetic testing for inpatients may identify variants of unknown significance instead of well-known neurodevelopmental disorder risk variants. Genetic testing on an inpatient CAP service may also improve access to genetic services for underrepresented minorities, but assuring outpatient follow-up can be challenging. LAY SUMMARY: Genetic testing is recommended for children with autism and related developmental conditions. We provided genetic testing to a group of these children who were in a psychiatric hospital by teaching their doctors how it can be helpful. We identified a genetic risk factor in a small percentage of children and a possible genetic risk factor in a large percentage of children. However, many children did not end up receiving their genetic test results once they left the hospital. These results tell us that the psychiatric hospital may be a good place for children with autism and behavioral problems to get genetic testing, but that it is really important that doctors assure follow-up is feasible for all patients to receive their genetic test results once they leave the hospital. Autism Res 2020, 13: 1450-1464. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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