New Approaches in Pharmacogenomics and Functional Genomics

Dear Colleagues,

Inter-individual variability in drug response is common and is becoming increasingly significant as aging populations require multiple medications. Genomic factors are among the major contributors to this variability, influencing drug efficacy, toxicity and disease susceptibility. Advances in next-generation sequencing technologies have enabled the identification of numerous genetic variants, including rare variants with low allele frequencies. However, the clinical interpretation of many of these variants remains uncertain due to insufficient functional evidence. While pharmacogenomics has made substantial progress, a considerable knowledge gap still exists between genomic discovery and clinical implementation. Bridging this gap requires a deeper biological understanding of variant function and improved translational strategies.

Cutting-edge research in pharmacogenomics focuses on translating genomic discoveries into clinically actionable guidelines through prospective trials, real-world evidence and functional validation studies. Functional genomics, especially when integrated with artificial-intelligence (AI)-based predictive modeling and multi-omics data analysis, is essential for clarifying the biological impact of rare and novel genetic variants.

This Special Issue aims to collect innovative research and practical approaches that facilitate the integration of pharmacogenomic knowledge into clinical practice. In particular, we seek to highlight studies that combine pharmacogenomics with functional genomics and advanced analytical technologies to improve the prediction of drug response and disease risk.

We welcome original research articles, reviews and updated overviews in pharmacogenetics and pharmacogenomics. Suitable topics include drug- and disease-specific pharmacogenomic testing strategies, genomic biomarkers for predicting therapeutic outcomes and innovative treatment approaches based on genetic information. We also encourage submissions on user-friendly clinical decision support tools and software for personalized medicine. Studies that investigate the biological functions of genetic variants—particularly rare variants—through experimental functional genomics approaches are strongly encouraged. Research incorporating AI-driven tools, machine-learning algorithms, in silico functional prediction platforms and integrative multi-omics analyses to enhance variant interpretation will be of particular interest. Collaborative studies bridging genomic scientists and healthcare providers to facilitate clinical implementation are also highly valued. Educational strategies and system-level approaches for integrating pharmacogenomics into healthcare systems are welcome as well.

Dr. Su-Jun Lee
Guest Editor

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