The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

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.

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure

“…There are specialized clinics that provide comprehensive care to children with genetic variants such as those underlying Down syndrome, 22q11DS, Fragile X, Angelman and Prader-Willi syndromes, often embedding psychiatry and/or psychology within a broader service model [ 62 – 65 ]. Other approaches have involved integrating genetics into an outpatient psychiatric clinic for children with autism and/or ID to facilitate genetic evaluations and follow-up [ 66 , 67 ]. However, to the best of our knowledge, the DAGSY Clinic at SickKids is the first interdisciplinary clinic offering an integrated assessment by clinicians with expertise across psychiatry, development, cognition and genetics.…”

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

“…Inpatient care delivery of clinical genetics evaluation and testing is a somewhat novel concept, and to our knowledge, we are the first to report on the model of embedding a clinical geneticist into psychiatric acute inpatient care delivery. Prior work in this area included a pilot project trialing a different model, where psychiatric practitioners (fellow physicians) were trained to send genetic testing on inpatients ( Bestermen et al, 2020 ). In their model, genetic testing was initiated during the inpatient setting, and patients were then referred to outpatient clinical genetics providers for result disclosure, variant interpretation, and genetic counseling.…”

“…Neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD), intellectual disability (ID), and global developmental delay (GDD), are among the most common indications for referral to clinical genetics evaluation ( Mahler et al, 2019 ). Indeed, identifying a molecular diagnosis for patients presenting with NDD impacts the patient directly, along with their families, with potential benefits including more accurate reproductive counseling, engagement in community supports, connection to disorder-specific support groups, improved prognostic information on comorbidities leading to specific disease monitoring or direct changes in medical management, and the opportunity for participation in gene-specific translational research studies and clinical trials ( Besterman et al, 2020 ). The current American College of Medical Genetics (ACMG) guidelines recommends genetic testing for all patients with NDD ( South et al, 2013 ; Manickam et al, 2021 ).…”