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

Abstract

AbstractObjectiveDiagnostic 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.MethodsWe 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.ResultsThe genetic testing rate on the inpatient CAP service was 1.6% (2/125) before the educational intervention and 10.7% (21/197) afterwards (OR = 0.13, 95% CI = 0.015- 0.58, 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, compared to 7.7% (1/13) of patients who received genetic testing on other clinical services (OR = 7.35, CI = 0.81-365.00, p = 0.057). 43.5% of patients were lost to outpatient genetics follow-up.ConclusionMedical genetics education for fellows on an inpatient CAP service can improve genetic testing rates. Genetic testing for inpatients may primarily identify VUSs instead of well-known NDD risk variants. Genetic testing on the inpatient CAP service may improve access to genetic services for underrepresented minorities, but assuring outpatient follow-up can be challenging.