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Review
. 2023 Oct;70(5):995-1011.
doi: 10.1016/j.pcl.2023.05.010. Epub 2023 Jul 3.

Current Practices in Pharmacogenomics

Laura B Ramsey  1 , Cynthia A Prows  2 , Sonya Tang Girdwood  3 , Sara Van Driest  4
Affiliations
Review

Current Practices in Pharmacogenomics

Laura B Ramsey et al. Pediatr Clin North Am. 2023 Oct.

Abstract

Pharmacogenomics, where genomic information is used to tailor medication management, is a strategy to maximize drug efficacy and minimize toxicity. Although pediatric evidence is less robust than for adults, medications influenced by pharmacogenomics are prescribed to children and adolescents. Evidence-based guidelines and drug label annotations are available from the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Pharmacogenomics Knowledgebase (PharmGKB). Some pediatric health care facilities use pharmacogenomics to provide dosing recommendations to pediatricians. Herein, we use a case-based approach to illustrate the use of pharmacogenomic data in pediatric clinical care and provide resources for finding and using pharmacogenomic guidelines.

Keywords: Genomics; Guidelines; Pediatrics; Pharmacogenetics.

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Figures

Fig. 1.
Fig. 1.
Examples of a pro-drug being metabolized to an active drug (codeine to morphine, A) and active drug being metabolized to an inactive drug (Proton pump inhibitors, (PPIs), B) with the blood concentrations and Clinical Pharmacogenetics Implementation Consortium (CPIC) recommendations., This figure was created using Biorender.com.
Fig. 2.
Fig. 2.
Find the Pharmacogenomics Knowledgebase (PharmGKB) pediatric website by going to pharmgkb.org and clicking the link for the pediatric website (indicated by the orange arrow in A) or go straight to what is shown in panel B at https://www.pharmgkb.org/pediatric/dashboard.
Fig. 3.
Fig. 3.
Escitalopram dosing recommendations are based on CYP2C19 phenotype. This figure was created using Biorender.com.
Fig. 4.
Fig. 4.
Nonsteroidal anti-inflammatory drugs (NSAIDs) dosing recommendations are based on CYP2C9 phenotype. Of note, CYP2C9 does not have any variants that would make a patient a rapid or ultrarapid metabolizer. This figure was created using Biorender.com.
Fig. 5.
Fig. 5.
Voriconazole recommendations are based on CYP2C19 phenotype. This figure was created using Biorender.com.
Fig. 6.
Fig. 6.
Tacrolimus recommendations are based on CYP3A5 phenotype. This figure was created using Biorender.com.
See this image and copyright information in PMC

References

    1. Relling MV, Klein TE, Gammal RS, et al. The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later. Clin Pharmacol Ther 2020;107(1):171–5. - PMC - PubMed
    1. Ramsey LB, Ong HH, Schildcrout JS, et al. Prescribing Prevalence of Medications With Potential Genotype-Guided Dosing in Pediatric Patients. JAMA Netw Open 2020;3(12):e2029411. - PMC - PubMed
    1. Avello K, Bell M, Stein Q, et al. Perspectives of Pediatric Providers Regarding Clinical Use of Pharmacogenetics. S D Med 2021;74(7):294–301. Available at: https://pubmed.ncbi.nlm.nih.gov/34449988/. Accessed October 14, 2022. - PubMed
    1. Ramsey LB, Prows CA, Zhang K, et al. Implementation of Pharmacogenetics at Cincinnati Children’s Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine. Clin Pharmacol Ther 2019;105(1):49–52. - PMC - PubMed
    1. Brown JT, Ramsey LB, Van Driest SL, et al. Characterizing Pharmacogenetic Testing Among Children’s Hospitals. Clin Transl Sci 2021;14(2):692–701. - PMC - PubMed

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