Microarrays for Preemptive Pharmacogenomics

The Axiom PharmacoScan Solution offers broad coverage of industry-relevant, multi-ethnic content and the capability to address markers in complex genes using an array-plate platform that has superior lot-to-lot reproducibility. The PharmacoScan Solution targets functional variations in the key genes involved in the absorption, distribution, metabolism, and excretion (ADME) of commonly prescribed medications and can help reduce the lengthy timelines and complexities within the drug discovery process.

Unlike solutions that analyze only high-evidence markers, the Axiom PharmacoScan Solution presents a more comprehensive view for genotyping for pharmacogenomic risk by analyzing over 4500 high- to low-evidence markers within nearly 800 genes in a single assay. The solution includes CNV calling and interrogating predictive markers in complex genes.

The content of the PharmacoScan array (Figure 1) includes:

• Core functional pharmacogenomic content, including markers from the Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines, the Pharmacogenomics Knowledge Base (PharmGKB) markers in Very Important Pharmacogenes (VIP), PharmGKB markers with clinical annotations, and PharmaADME core markers
• Nearly all markers from our DMET Plus Solution (1,936 genetic variants across 231 relevant genes)
• Human leukocyte antigen (HLA) markers associated with drug reactions
• Markers for killer cell immunoglobulin-like receptors (KIR), human ancestry identification, and sample identification and tracking
• Pharmacogenetics and ADME markers in genes targeted for European populations drawn from our UK Biobank Axiom Array

Fig 1. Distribution of consortia and sources used to select the ADME markers for the PharmacoScan Solution.

The Axiom PharmacoFocus Solution is ideal for preemptive pharmacogenomics with the flexibility of a multi-gene test panel aligned with your pharmacogenomics research, whether it takes place in labs, academic hospitals, healthcare centers, or the pharma industry.

The Axiom PharmacoFocus assay provides comprehensive coverage of high evidence content (88% of variants in PharmGKB highest levels of evidence) with 2,000 markers in 150 genes covering population diversity. This unique solution offers total flexibility to choose few or all from a comprehensive set of 2,000 high-evidence ADME variants to generate high accuracy pharmacogenomic SNP, CNV, and HLA typing, all in a single workflow at lower cost. The array has been designed to enable accurate genotyping of even technically challenging ADME variants in complex genes through a gene-specific amplification step. 

With over 35% of high-evidence functional variants implicated in toxicity and adverse drug reactions (ADRs) the Axiom PharmacoFocus Array is ideal for research on population-scale preemptive pharmacogenomic strategies or early-phase clinical research to support better research outcomes.

The Axiom PangenomiX Array is the most comprehensive array within the Axiom microarray catalog for studying disease susceptibility and risk, pharmacogenomics (PGx), and genetic factors underlying wellness and lifestyle in diverse populations. It offers >850,000 markers selected for high genomic coverage from the 1000Genomes Project Phase III and other broadly referenced public databases, including ClinVar, NHGRI-GWAS catalog, CPIC, and PharmaGKB. Publicly available imputation algorithms enable imputation to the whole genome.

The pharmacogenomics module includes:

• 1,200 core and extended functional pharmacogenomic research markers from Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines
• 1,098 markers in Very Important Pharmacogenes as identified by PharmGKB
• 260 markers in level 1 and level 2 categories that are of high and moderate significance
• 2,300 markers in level 3 and level 4 categories that are of low significance with research utility
• 1,936 markers from the DMET Plus Solution
• 33 markers in HLA genes associated with drug reactions

The Axiom PangenomiX Array used in conjunction with the Axiom 2.0 Plus Assay can unlock over 80 critical star alleles associated with highly predictive markers in genes including CYP1A2,CYP2D6, CYP2B6, CYP2A6, SULT1A1, CYP2C19, and CYP2C8. This unique assay opens up the ability to genotype these important pharmacogenomic markers that are in highly homologous regions of the genome.

Axiom myDesign arrays allow flexible access to custom genotyping for small and large studies, supported by a world-class design team for fast design and delivery. With Axiom myDesign Genotyping arrays, you can create fully or semi-customizable genotyping arrays for agrigenomics and human genotyping applications. Based on the universal workflow of the Axiom Genotyping Solution, Axiom myDesign arrays offer unprecedented scale and flexibility to design an optimal array for your species of interest.  Fully or semi-customized arrays containing 1,500 to 2.6 million markers can be designed and available in as few as six weeks after SNP lockdown. For more information, visit the Custom Arrays Page.