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http://dx.doi.org/10.1097/FPC.0b013e328333dae6 | DOI Listing |
Clin Pharmacol Ther
June 2025
Committee on Clinical Pharmacology and Pharmacogenomics, University of Chicago, Chicago, Illinois, USA.
Germline pharmacogenetics (PGx) is increasingly used to tailor medication selection/dosing. However, existing systems primarily communicate PGx results to providers, limiting direct patient engagement. To address this, we developed YourPGx Oncology, an innovative patient-facing portal that delivers multi-gene PGx results (CYP2D6, UGT1A1, DPYD) through 33 unique, patient-friendly summaries.
View Article and Find Full Text PDFInnovation (Camb)
February 2025
Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410078, China.
Pharmacogenomic landscapes and related databases are important for identifying the biomarkers of drug response and toxicity. However, these data are still lacking for the Chinese population. In this study, we constructed a pharmacogenomic landscape and an associated database using whole-genome sequencing data generated by non-invasive prenatal testing in 206,640 Chinese individuals.
View Article and Find Full Text PDFJ Appl Lab Med
March 2025
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Background: Pharmacogenomics has demonstrated benefits for clinical care, including a reduction in adverse events and cost savings. However, barriers in expanded implementation of pharmacogenomics testing include prolonged turnaround times and integration of results into the electronic health record with clinical decision support. A clinical workflow was developed and implemented to facilitate in-house result generation and incorporation into the electronic health record at a large academic medical center.
View Article and Find Full Text PDFClin Pharmacol Ther
October 2024
Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Research Institute (CMRI), Kansas City, Missouri, USA.
The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human CYP4F2 gene. CYP4F2 genetic variation impacts the metabolism of vitamin K, which is associated with warfarin dose requirements, and the metabolism of drugs, such as imatinib or fingolimod, and certain endogenous compounds including vitamin E and eicosanoids. This GeneFocus provides a comprehensive overview and summary of CYP4F2 genetic variation including the characterization of 14 novel star alleles, CYP4F2*4 through *17.
View Article and Find Full Text PDFJ Appl Lab Med
January 2024
Department of Pathology, University of Utah, Salt Lake City, UT, United States.
Background: Pharmacogenetics or pharmacogenomics (PGx) is the study of the role of inherited or acquired sequence change in drug response. With the rapid evolution of molecular techniques, bioinformatic tools, and increased throughput of functional genomic studies, the discovery of PGx associations and clinical implementation of PGx test results have now moved beyond a handful variants in single pharmacogenes and multi-gene panels that interrogate a few pharmacogenes to whole-exome and whole-genome scales. Although some laboratories have adopted next-generation sequencing (NGS) as a testing platform for PGx and other molecular tests, most clinical laboratories that offer PGx tests still use targeted genotyping approaches.
View Article and Find Full Text PDF