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Implementation of Integrated Clinical Pharmacogenomics Testing at an Academic Medical Center.
J Appl Lab Med
December 2024
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 PDFPharmVar GeneFocus: CYP4F2.
Clin 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 PDFInterrogating Pharmacogenetics Using Next-Generation Sequencing.
J 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 PDFPharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.
Clin Pharmacol Ther
December 2023
Children's Mercy Research Institute (CMRI), Kansas City, Missouri, USA.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation. CYP2D6 contributes to the metabolism of numerous drugs and, thus, genetic variation in its gene impacts drug efficacy and safety. To accurately predict a patient's CYP2D6 phenotype, testing must include structural variants including gene deletions, duplications, hybrid genes, and combinations thereof.
View Article and Find Full Text PDFPharmacogenomics in the Management of Pulmonary Arterial Hypertension: Current Perspectives.
Pharmgenomics Pers Med
July 2023
Department of Pharmacy and Therapeutics, University of Pittsburgh School of Pharmacy, Pittsburgh, PA, USA.
Pulmonary arterial hypertension (PAH) is a rare disease with heterogeneous causes that can lead to right ventricular (RV) failure and death if left untreated. There are currently 10 medications representative of five unique pharmacologic classes that are approved for treatment. These have led to significant improvements in overall clinical outcome.
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