The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service.
A simple teaching session on the psychiatry ward quadrupled genetic testing for autism and enrolled more minority families, but almost half still slipped through follow-up cracks.
01Research in Context
What this study did
Doctors on a child psychiatry inpatient unit taught residents to order genetic tests for autism.
They tracked how many families agreed before and after the training.
Most kids had autism or developmental delay and stayed on the unit for short-term care.
What they found
Testing jumped from 2% to 11% after the short training.
Black and Hispanic families made up 39% of those tested, far above the 8% seen elsewhere in the hospital.
Yet 43% of families never got results because they missed the follow-up genetics visit.
How this fits with other research
Lee et al. (2022) saw the same gap in Jordan: most kids with autism never get the genetic tests doctors recommend.
Al-Mamari et al. (2015) and Duerden et al. (2012) showed why the test matters—chromosomal microarray finds a clear cause in about 1 of every 4 patients.
Hilton et al. (2010) warned that U.S. studies often exclude minority families; Lotfizadeh et al. (2020) prove an inpatient teaching model can reverse that trend.
Why it matters
You can copy the inpatient trick: add a checkbox to your admission order set that prompts residents to consider genetic testing. One 10-minute talk quadrupled uptake and reached more families of color. Build in a discharge plan that schedules the genetics clinic visit before the family leaves; nearly half were lost without it.
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02At a glance
03Original 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.
Autism research : official journal of the International Society for Autism Research, 2020 · doi:10.1002/aur.2338