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Pharmacogenetic Testing In Patients with Autism Spectrum Disorder Evaluated in a Pediatric Precision Medicine Clinic Purpose The purpose of this study is to investigate the demographic and presentation profiles of children with autism spectrum disorder (ASD) who present for evaluation in a pediatric precision medicine clinic. Methods: This retrospective, observational cohort study utilized data extracted from a pediatric precision medicine clinic database between 2010 and 2021 with recorded ICD9/10 codes of Autism Spectrum Disorder, Autistic Disorder, Pervasive Developmental Disorder, or Asperger’s Syndrome. Extracted variables included demographic data, presenting medication regimens and concerns to be addressed by precision medicine. Results: A sample of 202 patients was identified (see Table 1). Patients referred for precision medicine services were primarily due to poor medication response (64.8%) and/or adverse drug reactions (48.5%). Referrals were made by subspecialists (78.2%), primary care providers (16.3%), and via self-referral (4.95%). At presentation to the clinic, patients were already prescribed between 1-10 medications (Mean = 6.15, Median 5; see Figure 1). Medications with indication commonly used for sleep, gastrointestinal disorders, and psychiatric/behavioral disorders were among the most common medications taken at the time of evaluation (see Figure 2). At time of presentation to the clinic, males and females did not differ in terms of age (t= 1.22, p = 0.22) or number of medications taken (t = 0.994, p = 0.323). Age was also not significantly associated with number of medications (F = 0.277, p = 0.527). Conclusions: Youth with ASD presenting for precision medicine consultation experienced notable degrees of polypharmacy, with no clear differences associated with sex or age. Trends may emerge with the addition of a typically developing control group, and the robustness of associations must be evaluated in samples drawn from a wider variety of practice settings. While these findings are primarily descriptive, the data fill a critical gap regarding the characteristics of youth with ASD referred for precision medicine. Few dedicated precision medicine clinics exist, yet this service is increasingly recommended for youth with autism due to higher rates of adverse drug reactions and clinical nonresponse. More research is needed to establish how precision medicine fits within existing evidence-based guidelines and can most effectively serve this population.


Behavioral Medicine | Pediatrics


Presented at the Society for Developmental & Behavioral Pediatrics 2021 Virtual Annual Meeting, October 21-25, 2021.

Pharmacogenetic Testing In Patients with Autism Spectrum Disorder Evaluated in a Pediatric Precision Medicine Clinic