Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade

• Published in: The Journal of molecular diagnostics : JMD Vol. 18; no. 3; pp. 438 - 445
• Main Authors: Ji, Yuan, Skierka, Jennifer M, Blommel, Joseph H, Moore, Brenda E, VanCuyk, Douglas L, Bruflat, Jamie K, Peterson, Lisa M, Veldhuizen, Tamra L, Fadra, Numrah, Peterson, Sandra E, Lagerstedt, Susan A, Train, Laura J, Baudhuin, Linnea M, Klee, Eric W, Ferber, Matthew J, Bielinski, Suzette J, Caraballo, Pedro J, Weinshilboum, Richard M, Black, 3rd, John L
• Format: Journal Article
• Language: English
• Published: United States American Society for Investigative Pathology 01.05.2016
• Subjects: Alleles; Cytochrome P-450 CYP2C19 - genetics; Cytochrome P-450 CYP2C19 - metabolism; Cytochrome P-450 CYP2D6 - genetics; Cytochrome P-450 CYP2D6 - metabolism; Enzyme Activation; Gene Duplication; Genotype; High-Throughput Nucleotide Sequencing; Humans; Pharmacogenetics - methods; Phenotype; Precision Medicine - methods; Regular

Significant barriers, such as lack of professional guidelines, specialized training for interpretation of pharmacogenomics (PGx) data, and insufficient evidence to support clinical utility, prevent preemptive PGx testing from being widely clinically implemented. The current study, as a pilot project...