Raymond Lorenz, PharmD, BCPP & Ansha Gupta
Integration of Pharmacogenomics in Autism Management. What if there were a way to alleviate some of the frustrations that go along with autism? Autism Spectrum Disorder (ASD) is a genetic neurodevelopmental condition. While ASD has no cure, medications can reduce symptoms such as irritability and aggression. However, the response to autism medications varies by individual, leading to ineffective treatments or adverse effects and only exacerbating difficulties. Current pharmaceutical approaches to treatment include FDA-approved medications and off-label drugs guided by pharmacogenomics (PGx), but barriers to clinical implementation of genetic technology remain at large.
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Risperidone and aripiprazole metabolized by CYP2D6 and 3A4. The two FDA-approved drugs for the treatment of irritability in ASD are risperidone and aripiprazole. Both of these antipsychotics are metabolized by the highly polymorphic CYP2D6 and CYP3A4 enzymes. Genetic variations may alter their efficacy and safety. For example, poor metabolizers will have increased blood levels of the medication leading to more side effects and possible toxicity, whereas ultrarapid metabolizers will achieve subtherapeutic effects. This variability supports the need for individualized medication and dose selection with PGx.
Parents and clinicians turning to PGx to personalized treatment for ASD comorbidities. Off-label treatments for ASD comorbidities include selective serotonin reuptake inhibitors (SSRIs) and stimulants, which are widely used for anxiety and attention deficit hyperactivity disorder (ADHD), respectively. PGx guidelines, including CPIC recommendations, highlight which genetic variants might predispose a patient to sensitivity versus one who does not respond to treatment (Clinical Pharmacogenetics Implementation Consortium [CPIC], 2023). However, evidence for the clinical utility of PGx in children is mixed (Brueggeman et al., 2023). Regardless, many parents and clinicians are turning to PGx to aid in creating personalized treatment for ASD-associated comorbidities.
High costs and lack of pediatric data barriers to PGx implementation. The major barriers to implementing PGx in ASD treatment include a lack of pediatric data and standardized guidelines and the high costs of testing. While there are no specific guidelines for using PGx in ASD, many medications used in ASD have PGx-related guidance, giving providers another tool to help them make targeted treatment suggestions (Lee et al., 2023).
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