Pharmacogenomics and Pediatric Pharmacotherapy

Dear Colleagues,

Personalized pharmacotherapy in children exploits genetic insights into minimizing adverse drug reactions (ADRs) and improving safety, in addition to optimizing efficacy. Unlike adults, the pediatric population undergoes accelerated physiological changes, including organ maturation, the ontogeny of enzymes, transporters, and, most importantly, body composition. These dynamic changes, along with genetic changes that are either static or dynamic, affect drug absorption, distribution, metabolism, excretion, and pharmacodynamic function. Pharmacogenomics (PGx) may have an additional influence on maturation and function. The challenge is to bridge these insights addressing heterogeneity, subgroup components, dynamic physiological changes, and specific disease-related components integrated into modeling to deliver tools for optimized therapy in pediatric populations. About 100 drugs have pharmacogenomic information integrated into their labeling, and 30% of them are routinely prescribed in the pediatric population. The Clinical Pharmacogenetics Implementation Consortium (CPIC) and other working groups, consortiums like the DPWG have published pediatric-specific PGx guidelines. Advances in sequencing technologies have enabled pre-emptive pharmacogenetic testing at birth, with lifetime applicability for existing drug–gene pairs and any new gene–drug pairs that may emerge in the future. Technological advances like AI tools and machine learning can help us in the development of tools or algorithms for personalized pharmacotherapy.

However, challenges exist for PGx’s implementation. Incomplete understanding of drug-metabolizing enzymes and transporter maturation trajectories limits the precise modeling of drug clearance in very young populations, i.e., neonates and toddlers. There are also issues related to ethics, logistics, data privacy, and insurance-related complexities while harboring this PGx information. We need to learn from large-scale pediatric cohorts and biobanks along with registries to map genetic–phenotype correlations throughout childhood that may provide invaluable insights for future implementation. Also, efforts are needed to reach a consensus between different working groups and consortiums to have unified PGx guidelines (e.g., CPIC, DPWG, UKPGx). Forming teams with diverse expertise such as pharmacists, geneticists, IT specialists, and clinicians to develop dosing algorithms, interpret complex genotypes, and updating guidelines is an essential component of the successful implementation of PGx in pediatric clinics.

Pharmacogenomics is definitely reshaping pediatric pharmacotherapy, and to celebrate this, we welcome the submission of manuscripts focused on the following: (a) providing novel insights on genotype–phenotype correlations, (b) addressing the challenges of PGx implementation in pediatric centers, (c) providing insights on newer technologies that may aid in addressing challenges, (d) future directions, (e) educational material for implementation of PGx testing in pediatric centers, (f) course curriculum development for pediatricians in training, and (g) experiences in setting up pre-emptive PGx testing.

We look forward to receiving your submissions.

Dr. Chakradhara Rao Satyanarayana Uppugunduri
Guest Editor

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• pharmacokinetics
• pediatric formulations
• pharmacodynamics
• drug metabolism
• pharmacogenetics
• drug transport
• ontogeny developmental pattern
• modeling
• drug safety
• simulation
• off-label drug use