Josiah Brown Poster Abstract

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Joshua E. Sadik
Dr. Julian Martinez and Dr. Aaron Besterman
Dr. Julian Martinez and Dr. Aaron Besterman
Effects of an Educational Initiative on the Rate of Genetic Testing in an Inpatient Child Psychiatry Unit
Psychiatry Summer Fellowship

Developmental disorders, including autism spectrum disorders and intellectual disability, are a class of psychiatric conditions originating in childhood that have strong genetic underpinnings. Identifying a pathogenic genetic variant in a child with a developmental disorder of previously unknown etiology can provide a range of benefits to the patient and family: identifying and managing risk for co-morbidities, providing parents with estimates of the recurrence risk of having another affected child, and gaining eligibility for gene-targeted clinical trials are all viable results of establishing a genetic diagnosis. Several medical groups, correspondingly, have recommended diagnostic genetic testing for children with developmental disorders of unknown origin. In July 2017, there was an initiative to educate the residents and fellows rotating on the Inpatient Child Psychiatry Unit of the Stewart & Lynda Resnick Neuropsychiatric Hospital at UCLA (NPH 4W) on the genetic testing guidelines for this subset of patients. In this study, we aim to determine, using retrospective chart review, the rate of genetic testing for patients admitted to NPH 4W both before and after the educational initiative. We further aim to explore examples of realized benefits of such genetic testing. We found that the number of patients with a developmental disorder of unknown etiology receiving a genetic workup after admission to NPH 4W increased dramatically after July 2017. We also present a case study of a patient admitted to this unit who benefitted from receiving a genetic diagnosis, but only years after her initial NPH 4W admission, illustrating the potential downside of delaying genetic testing. Lastly, we compared our genetic testing initiative with other inpatient psychiatric genetic testing programs; although the yield of the genetic testing in our study is lower than in the other studies examined, low sample size and differing patient characteristics between the studies renders it difficult to draw conclusions about the yield in our patient population. Nevertheless, in this study, we display the feasibility and utility of an educational initiative on genetic testing rates in an inpatient child psychiatry unit.  

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