P115: An Assessment of Real-World Evidence on the Impact of Pharmacogenomic Biomarker CYP2D6: A Systematic Review
Poster Presenter
Emma Kikerkov
Pharmacy and MPH Student
Eshelman School of Pharmacy United States
Objectives
To identify emerging qualitative themes in the literature regarding insights and opportunities for real-world data and evidence (RWD/E) to describe the utility of clinical pharmacogenomics (PGx) testing implementation for biomarker CYP2D6.
Method
Following PRISMA guidelines, a literature search and selection process comprised of four stages: identification, de-duplication, screening, and full-text review. Studies were included if they analyzed clinical PGx testing outcomes for biomarker CYP2D6 using electronic health records (EHRs) or insurance claims data. Articles were excluded if the studies did not use real-world clinical data (EHR or insurance claims) to evaluate patient and/or provider outcomes following CYP2D6 biomarker testing.
Results
Of the 218 articles retrieved from PubMed, Scopus, Semantic Scholar, and Google Scholar, 38 met inclusion criteria for final analysis. Several themes emerged across two domains: (1) CYP2D6-specific findings and (2) broader considerations for pharmacogenomics (PGx) and real-world data/evidence (RWD/E).
Within CYP2D6-specific findings, studies varied in their use of single-gene versus multi-gene panel sequencing approaches, with frequent co-analysis of other biomarkers. There was substantial inconsistency in phenotype classification, particularly in defining metabolizer status. Additionally, studies distinguished between drug–gene interactions (based on natural genotype) and drug–drug–gene interactions (phenoconversion), underscoring the complexity of clinical interpretation.
Broader PGx and RWD/E considerations included a wide range of healthcare provider decision-making following PGx testing. Retrospective analyses frequently lacked adequate stratification by gender, race, ethnicity, or genetic ancestry, with an underrepresentation of pediatrics adults, limiting generalizability. Implementation-related challenges included poor EHR integration of PGx results, limited reimbursement and high testing costs, and low PGx literacy among both clinicians and patients. Care delivery models ranged from centralized, pharmacist-led clinics to more variable, decentralized physician-led prescribing.
Therapeutic areas most assessed were pain management, psychiatry, and cardiology, highlighting CYP2D6’s relevance in these clinical contexts.
Conclusion
Findings from this review underscore critical ethical and policy considerations, particularly the need for representative real-world data (RWD) and inclusive methodologies to ensure equity in pharmacogenomics (PGx) implementation. Challenges included data interoperability, testing costs, and limited clinician familiarity with PGx. The underrepresentation of pediatric populations further emphasizes the need for dedicated pediatric PGx research. Notably, when implementation was successful, clinicians frequently followed PGx-informed prescribing recommendations. Next steps to advance PGx implementation include developing standardized phenotype classifications, improving interoperability, and investing in pediatric and demographically diverse studies to improve both interoperability and equity. Additionally, expanding clinician education and conducting implementation science research are essential to support the integration of PGx-informed care into routine clinical workflows.
