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Five Reasons Why Pediatricians Should Consider Pharmacogenomic Testing for Children

Updated: Oct 6, 2021



Two Peer-Reviewed Studies Point to Emerging Value of PGx Testing for Children

A clinical study published in the Journal of Behavioral Pediatrics Developmental Behavior details the outcomes of, "pharmacogenomic (PGx) testing in children with developmental and/or behavioral disorders." The study followed 200 patients aged 5 to 17 with "behavioral and/or development disorder(s) and having received PGx testing between May 2015 and May 2017." The average age of participants was 10 years old, and the most common reasons for PGx testing were lack of response and adverse drug events. 

The authors describe the primary endpoint as the frequency of "frequency of PGx-guided medication changes after testing." They also looked at, "changes in therapy within each category, frequency and type of actionable genes, symptomatic improvement, and frequency of medication changes up to 6 months after PGx-guided therapy."

As a result of pharmacogenomic intervention, 84% of the participants received a "PGx-guided medication change(s) after testing." According to the authors, the "most common actionable genes were ADRA2A (47%), COMT (22%), and CYP2D6 (20%). Sixty percent were on the same medication(s) suggested by the PGx report 6 months later, and 64% had provider-documented symptomatic improvement." The authors conclude that PGx testing affects therapeutic decisions and outcomes in a pediatric population requiring behavioral health support.

In another study published in Pharmacogenomics (Vol. 17, NO. 9), Considerations of pharmacogenetic testing in children, “Approximately 60% of US children currently take a prescribed medication. Medication errors and biological differences in children increase the risk of adverse events (ADRs). Knowledge of pharmacogenetic (PGx) variants that impact ADR risk or drug efficacy may reduce these events by informing therapeutic decision-making and in turn reduce healthcare costs associated with suboptimal outcomes. Thus, the pediatric population may greatly benefit from pre-emptive PGx testing.”

Dr. Steven Ross, Chief Education Officer for Cygenex encourages pediatricians to consider introducing PGx testing into their practices, if they haven't already done so.


"This is critical in practice," says Ross, "as Pharmacogenomic testing can have a significant impact on preventing adverse drug reactions as well as reducing unnecessary emergency room visits and hospitalizations." He offers the five considerations below.


Five Reasons Why a Pediatrician Should Consider Pharmacogenomics Test

  1. Minimize Adverse Drug Events: Adverse drug response (ADR) in children is a major concern. It has been estimated that about 8% of the children on medications are at risk for drug–drug interactions.

  2. Reduce Unnecessary ER Visits: Emergency room visits for ADRs in children are primarily due to overdoses (45%), but 13% were due to adverse effects. About half of these visits were in children between one and four years of age.

  3. Minimize Risks Associate with Certain Drug Classes: Children and adolescents may have greater risk of ADRs related to psychotropic medications compared to adult patients.

  4. Manage and Reduce Overall Healthcare Spend: Children account for a substantial proportion of drug expenditures and related care. PGx testing can offer significant savings across populations.

  5. Improve Treatment Outcomes: With minimal risks associated with of PGx testing and potential benefits, PGx availability can help reduce pediatric ADRs and treatment failure.

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Sources: 1,2,3; Qato DM, Alexander GC, Guadamuz JS, Lindau ST. Prescription medication use among children and adolescents in the United States. Pediatrics. 2018;142:e20181042. doi:10.1542/peds.2018-1042 4, 5; PHARMACOGENOMICS VOL. 17, NO. 9 Considerations of pharmacogenetic testing in children Susanne B Haga & Benjamin D Solomon. Published Online:1 Jun 2016https://doi.org/10.2217/pgs-2016-0073

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