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Utilization of pharmacogenomics in a child and adolescent autism spectrum disorder depression and anxiety program: A retrospective study

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Autism spectrum disorder (ASD) is a neurological and developmental disorder affecting an estimated 2.9% of the population, and includes a wide range of behaviors, such as communication impairment, repetitive behaviors, highly fixated interests and maladaptive routines. Co-occurring depressive disorders, anxiety disorders, obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD) and other conditions are common. Medication management for individuals with ASD can be complicated, with reports of side effects and limited response for children with ASD when compared to neurotypical children. One approach to streamline medication management has been to incorporate pharmacogenomic (PGx) testing into the medical work-up, which may help predict medication response. Emerging evidence has suggested PGx may benefit individuals with ASD; however, there are currently no consensus ASD-specific PGx guidelines. To address this gap, we conducted a retrospective study comparing individuals diagnosed with ASD to determine if PGx-guided medication management would result in more patients prescribed medications congruent with gene-drug interactions, reduced polypharmacy and decreased symptom severity.

Methods:
A retrospective analysis of children and adolescents with ASD treated in a high acuity anxiety and mood disorders program, who were treated between January 2017 to May 2023, was conducted at a national behavioral health care system. Patients either had PGx testing or treatment as usual (TAU). The co-primary outcomes were medication changes and the Pediatric Quality of Life Enjoyment and Satisfaction Questionnaire (PQ-LES-Q). The secondary outcomes included polypharmacy rate, length of stay and assessments measuring severity or behavioral impact.

Results:
A total of 99 individuals diagnosed with ASD were analyzed. The average age for the PGx group was 14.2 ± 0.4 years and 60% were male. Similarly, the average age for TAU was 14.3 ± 0.5 years and 49% male. Individuals in the PGx cohort had an average of 4.2 behavioral health-related diagnoses. In comparison, the TAU cohort showed an average of 4.8 diagnoses. Prior to the PGx testing, 50% of individuals were taking medications with potential gene-drug interactions and 93% were taking >1 psychotropic medication at the time of admission. Following PGx testing, there was a reduction in prescribed medications with gene-drug interaction to 26% of the PGx group. Individuals tended to remain on the same antidepressant as they were on at the time of admission. Interestingly, 61% of individuals were prescribed the atypical antipsychotic, aripiprazole, regardless if testing suggested adjustments to dose or medication.  Quality of life and symptom assessments of depression, anxiety, obsessive-compulsive disorder and body-focused repetitive behaviors revealed similar improvement in the PGx and TAU groups. Subanalysis comparing congruent (“use as directed”) or incongruent “use with caution”) as well as analysis of only CYP2D6 and CYP2C19 gene-drug intereactions revealed similar profile.

Conclusion:
The current study evaluating PGx utility for individuals with ASD in a high-acuity depression and anxiety program demonstrated that medications were adjusted or selected, in part, based on potential gene-drug interaction, with the commercial test providing some benefice to providers when making decisions on medications. Subgroup analysis based on congruency, polypharmacy, and the PK-related enzymes, CYP2D6 and CYP2C19, did not offer meaningfully different results. Overall quality of life and symptom severity improved across all groups during the course of care and the PGx test may have helped to ensure certain patient groups did not have delays in this improvement. Future prospective, controlled trials are necessary to fully delineate specific patient populations that will benefit from PGx testing.

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