High-throughput PharmacoFocus Solution

DNA strand for Precision Medicine

High-throughput PharmacoFocus Solution

A thorough analysis of highly clinically relevant PGx genes in a single assay

Use of pharmacogenomics (PGx) information in the clinical trials has the potential to enable pharmaceutical companies to develop safer and more effective drugs. PharmacoFocusTM assay offers a thorough investigation of high-evidence, and highly clinically relevant PGx genes (Pharmacogenomics Knowledge Base (PharmGKB) clinical annotation level of evidence 1A-2B) that leads to better understanding of participant’s drug responses. The assay potentially reduces the lengthy timeline and complexities within the drug discovery process.

Key advantages1

  • 2,000+ markers in 150 ADME genes covering population diversity
  • Comprehensive Investigation of high-evidence pharmacogenomic research markers (PharmGKB clinical annotation level 1A-2B)
  • Copy number variation (CNV) analysis with high resolution copy number calls (0 to 3+) for the key ADME genes: CYP2D6, CYP2A6, GSTMT1, GSTT1, and UGB2B17.
  • Accurate genotyping of highly predictive markers in regions of high homology within CYP2C19, CYP2C8, CYP2D6, CYP2A6, CYP2B6, and GSTM1
  • 900+ unique star alleles/haplotypes across 66 PGx genes
Genes with CPIC clinical guidelines

CFTR, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, G6PD, IFNL3, SLCO1B1, TPMT, UGT1A1, VKORC1, CACNA1S, NUDT15, RYR1

 

Genes with haplotypes calling

CDA, CYP1A1, CYP1B1, CYP2A13, CYP2F1, CYP2J2, CYP2S1, CYP3A43, CYP4B1, CYP4F2, CYP19A1, F5, FMO1, FMO2, POR, PTGIS, SLC15A2, SLC22A2, SLCO2B1, SULT1A1, TBXAS1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10

Genes with copy number analyisis

CYP2A6, CYP2D6, GSTM1, GSTT1, UGT2B17

Highly accurate and reproducible clinically focused genotyping solution

RPRD is proud to be the early access site and first clinical laboratory to offer PharmacoFocusTM assay as a fully CLIA-certified diagnostic test. RPRD’s PharmacoFocusTM solution shows2

  • Highly accurate and reproducible testing results using various specimens, such as whole blood and saliva.
  • Accurate copy number calling for highly actionable genes, such as CYP2D6
  • Comprehensive HLA analysis with high resolution of typing (2-digit and 4-digit) of the major histocompatibility complex (3 MHC Class I and 8 Class II) loci, including HLA-A* and HLA-B* types with known relevance in drug metabolism
RPRD's poster demonstrating the performance of PharmacoFocus assay
Border Image

PharmacoScan Solution

Comprehensive analysis of known PGx markers in a single assay for clinical trials

Learn more

Custom analyisis and interpretation

RPRD’s experience in precision medicine offers custom analysis and interpretation to translate complex genomics information into clinical insights.

Learn more
References
  1. PharmacoFocus™ Assay Kit: https://www.thermofisher.com/order/catalog/product/952425#/952425
  2. Aggarwal, P. et al. Performance Analysis of a Comprehensive Clinically Focused Pharmacogentic Assay. Poster presentation at the Pharmacogenomics Research Network (PGRN) Meeting 2020