Have You Seen This?: Pharmacogenetics Could Transform Pediatric Care

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


Have You Seen This? 

Pharmacogenetics Could Transform Pediatric Care

DELRAY BEACH, FL  – Pharmacogenetics is a rapidly advancing field within precision medicine, with significant implications for pediatric healthcare. As numerous medications are prescribed to children, understanding how genetic factors influence drug response is crucial. However, many pediatricians lack adequate training to incorporate pharmacogenetic information into their practice effectively. A recent review from Vanderbilt University and Cincinnati Children’s Hospital Medical Center aimed to address this knowledge gap by providing an overview of pharmacogenetics, exploring gene-drug interactions for specific medications, discussing clinical implementation, and offering a general perspective on the field’s future.

One prominent example of a gene-drug interaction is the CYP2D6 enzyme’s role in metabolizing codeine into morphine. Genetic variations in the CYP2D6 gene can lead to poor metabolizers experiencing inadequate pain control, while ultrarapid metabolizers may be at risk of toxicity. Following severe adverse drug events (ADEs) in children, especially ultrarapid metabolizers, the FDA contraindicated codeine for children undergoing tonsillectomy and adenoidectomy. There have been suggestions to use pharmacogenetic testing to enable safe codeine use in certain cases, but further research is required to establish guidelines.

Other medications, such as proton pump inhibitors (PPIs) and selective serotonin reuptake inhibitors (SSRIs), also exhibit gene-drug interactions. CYP2C19 genetic variants influence PPI metabolism, while CYP2D6 variants affect SSRI metabolism. However, the evidence for these interactions in pediatrics is not as robust, emphasizing the need for further research specific to pediatric populations.

Pharmacogenetic testing can be implemented proactively or reactively, but it is essential to have large sample sizes, clinically meaningful endpoints, and representation of diverse populations to generate high-quality evidence. For successful integration into clinical practice, pharmacogenetic test results must be accessible and interpretable within the electronic health record (EHR), and pediatricians require appropriate education on how to use this information effectively. As evidence supporting pharmacogenetic associations continues to emerge, pediatric clinicians can anticipate increased integration of pharmacogenetics in their care of children, leading to more personalized and safer medication management.

Despite the promising potential of pharmacogenetics in pediatrics, several challenges remain. These include the cost-effectiveness of testing, the need for standardization in testing methodologies and result interpretation, and addressing ethical considerations surrounding genetic testing in children. Collaborative efforts between researchers, healthcare providers, policymakers, and stakeholders are necessary to overcome these challenges and maximize the benefits of pharmacogenetics in pediatric healthcare.

Pharmacogenetics offers a compelling avenue for improving medication management in pediatrics by considering individual genetic variability. By understanding gene-drug interactions, pediatricians can tailor treatment plans to optimize efficacy and minimize the risk of adverse reactions. However, widespread adoption of pharmacogenetic testing in pediatric practice requires continued research, education, and addressing logistical and ethical considerations. With ongoing advancements and increasing awareness, pharmacogenetics is poised to revolutionize pediatric medicine, providing a more personalized and safer approach to medication management for children.

  1. Tang Girdwood SC, Rossow KM, Van Driest SL, Ramsey LB. Perspectives from the Society for Pediatric Research: pharmacogenetics for pediatricians. Pediatr Res. 2022;91(3):529-538. doi:10.1038/s41390-021-01499-2
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