DOI: 10.1101/19004846Sep 14, 2019Paper

The Implementation, Diagnostic Yield and Clinical Outcome of Genetic Testing on an Inpatient Child and Adolescent Psychiatry Service

MedRxiv : the Preprint Server for Health Sciences
Aaron D BestermanJ. A. Martinez-Agosto


Objective: Diagnostic genetic testing is recommended for children with neurodevelopmental disorders (NDDs). However, many children with NDDs do not receive genetic testing. One approach to improve access to genetic services for these patients is to offer testing on the inpatient child and adolescent psychiatry (CAP) service. Methods: We implemented systematic genetic testing on an inpatient CAP service by providing medical genetics education to CAP fellows. We compared the genetic testing rates pre- and post-education. We compared the diagnostic yield to previously published studies and the demographics of our cohort to inpatients who received genetic testing on other clinical services. We assessed rates of outpatient genetics follow-up post-discharge. Results: The genetic testing rate on the inpatient CAP service was 1.6% (2/125) before the educational intervention and 10.7% (21/197) afterwards (OR = 7.26, 95% CI = 1.72-65.12, p = 0.0015). Diagnostic yield for patients on the inpatient service was 4.3% (1/23), lower than previously reported. However, 34.8% (8/23) of patients had variants of unknown significance (VUSs). 39.1% (9/23) of children who received genetic testing while inpatients were underrepresented minorities, comp...Continue Reading

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