As 2025 comes to a close, pharmacogenomics has firmly stepped out of its former niche and into the spotlight as a research-driven catalyst for personalized medicine. Over the past year, clinical studies, computational breakthroughs, implementation pilots, and global collaborations have accelerated our understanding of how genetic variation shapes drug response. The momentum built in 2025 signals a turning point where safer, more effective, and more equitable therapies for diverse populations are no longer distant ambitions, but rapidly emerging realities.
Below, we highlight and interpret the key pharmacogenomics studies and research outputs in 2025, capturing advances in clinical implementation, predictive modeling, health systems integration, and real-world evidence.
1. AI-Driven Pharmacogenomics: Validating RAG-Enhanced Clinical Query Tools
A notable study from July 2025 evaluated Sherpa Rx, an AI tool integrating Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines and Pharmacogenomics Knowledgebase (PharmGKB) data to answer pharmacogenomics questions.
Study Breakdown:
- Researchers assessed Sherpa Rx’s performance on 260 pharmacogenomics queries covering drug-gene interactions and dosing recommendations.
- Results showed high accuracy, relevance, and completeness, with Sherpa Rx outperforming baseline large language models such as ChatGPT on pharmacogenomics retrieval and interpretation tasks.
This research shows that AI augmented with validated PGx knowledge bases can offer actionable clinical guidance, an important step toward embedding pharmacogenomics into clinical decision support systems.
2. Awareness and Understanding of Pharmacogenomics Among Providers
In December 2025, a cross-sectional research study published in the Journal of Umm Al-Qura University for Medical Science examined awareness of pharmacogenomic capabilities among physicians and pharmacists in Saudi Arabia.
Key Findings:
- Most participants (73.5%) had good awareness of PGx concepts, suggesting conceptual knowledge is becoming more common.
- However, the study also highlights the need for structured education and policy support to translate awareness into clinical competence.
This study reveals that PGx is entering the clinical consciousness of healthcare professionals — a necessary precursor for actual implementation of pharmacogenomic testing.
3. Systematic Review of Real-World Evidence on CYP2D6 Testing
At the DIA 2025 conference, a poster titled “An Assessment of Real-World Evidence on the Impact of Pharmacogenomic Biomarker CYP2D6” showcased systematic review research focused on clinical outcomes when CYP2D6 testing was used in practice.
Key Research Focus:
- This poster review identified how real-world data (EHR and insurance claims) captures the utility and outcomes of clinical pharmacogenomic testing.
- It underscores the role of CYP2D6 pharmacogenomic biomarker data for predicting drug response and optimizing therapy.
Real-world evidence is essential for demonstrating clinical utility and economic value of PGx testing — a major factor for its broader adoption.
4. Pharmacogenomics Testing Implementation at a Tertiary Care Center
A pilot implementation study published in Genetics in Medicine Open (2025) reported on integrating pharmacogenomic testing into clinical services at a tertiary care hospital in Riyadh, Saudi Arabia.
Study Highlights:
- PGx testing was implemented for patients in cardiology and neurology clinics using a structured workflow integrated with electronic health records.
- The study examined both the feasibility and the real-world operation of pharmacogenomic testing in standard care.
Implementation studies like this are critical: they bridge the gap between research findings and clinical adoption, demonstrating workflows and outcomes that other health systems can replicate.
5. Global Pharmacogenetic Clinical Trial Trends
A cross-sectional analysis of ClinicalTrials.gov registrations through 2025 examined global trends and gaps in pharmacogenetic clinical trials.
Principal Findings:
- This descriptive analysis identifies ongoing and registered clinical trials explicitly addressing pharmacogenetic associations between genes and drug responses.
- It highlights trends such as trial focus areas and population representation gaps that need to be addressed for comprehensive PGx evidence.
Mapping clinical trial landscapes helps researchers and policymakers prioritize research that fills evidence gaps and drives better outcomes for diverse populations.
6. Broad Reviews and Technical Syntheses Advancing PGx Knowledge
Several major reviews and editorial contributions in 2025 synthesized pharmacogenomics evidence and identified key challenges and opportunities:
a) Review of CYP2D6 Biomarker Testing (Systematic Review)
A systematic review explored real-world evidence on CYP2D6 biomarker testing and its clinical relevance, highlighting the depth of PGx research across therapeutic areas.
b) Pharmacogenetic Panel Testing Review
A 2025 review in Annual Review of Pharmacology and Toxicology evaluated the current practice landscape and potential implementation of PGx panel testing, concluding that widespread pretherapeutic PGx panel tests are attractive but require clear evidence of cost effectiveness and patient stratification.
c) Editorial on Cancer Pharmacogenomics
A research topic editorial focused on pharmacogenomics for improving drug safety and efficacy in cancer therapy, reflecting the broader research activity linking PGx tools to oncology drug response optimization.
Reviews and editorial frameworks distill vast research into actionable guidance — shaping future research directions and clinical guideline formation.
7. Pediatric Pharmacogenomics Using Clinical Exome Sequencing
A 2025 study examined the clinical impact of pharmacogenomics in pediatric care by integrating pharmacogenomic data obtained from clinical exome sequencing.
Study Focus:
This research assessed how sequencing-based PGx markers can inform pediatric drug therapy, offering insights into age-specific gene-drug interactions and precision dosing.
Pediatric pharmacogenomics is an area with unique challenges — children often have different drug metabolism profiles than adults, making genomics data even more crucial for safety and efficacy.
8. Population Studies and Pharmacogenomics Implementation Reviews
While not a single discrete 2025 study, broader research themes in pharmacogenomics highlight key directions for research focus:
Population Pharmacogenomics Diversity
Reviews of pharmacogenetic diversity across different ethnic groups (e.g., CYP2B6, CYP2C19, CYP2D6) emphasize the importance of population-specific data to optimize drug therapy.
Implementation Working Group
The Pharmacogenomics Global Research Network Implementation Working Group aims to coordinate global efforts on implementation strategies, metrics, and genotype-guided therapy outcomes.
Understanding population variation and fostering collaborative implementation research are key for ensuring PGx benefits are equitable and globally relevant.
What Can We Infer From the 2025 Pharmacogenomics Research Focus?
From the studies outlined above, we can extract several major research trends and insights in pharmacogenomics during 2025:
a) AI and Computational Enhancements
The integration of AI with curated PGx datasets (e.g., Sherpa Rx) shows how machine learning can support clinical decision-making and evidence interpretation.
b) Provider Awareness and Barriers
Studies on physician and pharmacist awareness highlight ongoing implementation barriers even where conceptual knowledge exists.
c) Real-World Evidence & Clinical Utility
Systematic evidence reviews and implementation pilots are critical for demonstrating clinical utility and integration pathways.
d) Global and Population Focus
Efforts to map clinical trials and review population genomics reflect a broadening understanding of how genetic variation impacts pharmacotherapy across diverse groups. e) Specialty Applications
Research into pediatric care and oncology pharmacogenomics shows the field’s expansion into areas with high therapeutic impact.
A Research-Driven Path to Precision Medicine
The year 2025 marks a pivotal phase for pharmacogenomics — defined by rigorous scientific inquiry, real-world data integration, and early implementation studies that bring genetics into everyday healthcare decisions. From AI-enhanced PGx tools and global trial mapping to clinical pilots and knowledge dissemination, pharmacogenomics research is building the evidence base necessary for its widespread adoption.
As these studies demonstrate, the future of individualized pharmacotherapy is not only conceivable, it’s actively being constructed by researchers around the world.
References
- https://arxiv.org/abs/2507.21453
- https://www.researchgate.net/publication/398346218_Awareness_of_pharmacogenomic_capabilities_among_physicians_and_pharmacists_in_Saudi_Arabia_within_current_clinical_practice
- https://pubmed.ncbi.nlm.nih.gov/40519746/
- https://pubmed.ncbi.nlm.nih.gov/41431030/
- https://pubmed.ncbi.nlm.nih.gov/40949723/
- https://pubmed.ncbi.nlm.nih.gov/39348848/
- https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2025.1649258/full
- https://pubmed.ncbi.nlm.nih.gov/40171627/
- https://journals.lww.com/jpharmacogenetics/abstract/2025/01000/the_pharmacogenomics_global_research_network.1.aspx
