PHARMACOGENOMIC SUPPORT

PHARMACOGENOMICPharmacogenomics is the study of how an individual’s genetic makeup influences their response to drug therapies. The aim is to combine pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective but safe medications tailored to each patient’s genetics.

With the knowledge gained from genetic research, scientists are learning how inherited differences in genes affect a body’s response to medications. These genetic differences can be used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.

Metabolic Gene Profiling

Proteins and enzymes determine the rate and efficiency of processing of various chemicals, including drugs and medications. Drug metabolism is often implicated in many disease states including cancer, intoxification, addiction, and metabolic diseases. The 230 or so genes encoding enzymes which are important for drug transport (such as metallothioneins and P-glycoproteins), phase I metabolism (specifically the P450 family), and phase II metabolism (such as transferases and hydrolases) are the focus of genetic analysis to help determine an individual’s response to a particular medication or dose.

ACGT can provide genetic analysis of all, some, or just one of these important genes, applying a number of different assays:

  • Various genotyping arrays can be used to evaluate different subsets of the metabolic gene panel on the Illumina® iScan platform, with identification of relevant DNA variants.
  • PCR / Sequencing applying Sanger technology, for a detailed analysis of sequences of individual genes, exons, or individual polymorphism sites.
  • TaqMan® genotyping assays to analyze SNP status of one to hundreds of SNPs in the genes of interest, or applying specialized
    Drug Metabolism assays.
  • Analysis of variable repeats (VNTRs, STRs, etc.).
  • Analysis of expression levels with real-time RT-PCR, applying commercial kits such as the Human Drug Metabolism RT2 Profiler PCR Array, or many others.
Companion Diagnostics

PHARMACOGENOMICCompanion diagnostics is a relatively new field that holds promise in changing the way drugs are made and marketed. A companion test is the genetic analysis of a biomarker strongly associated with a response to a specific drug. In other words, the genetic status of the biomarker (i.e. what alleles are found in the patient) determines their response to the drug.

With more biomarkers being discovered and validated, the overall aim is to quickly predict whether a drug will work in an individual or what type of dose that individual should be prescribed.

ACGT can provide genetic analysis of any biomarker of interest, applying a number of different assays:

  • Custom capture of a specific gene’s sequence, and sequencing analysis on the Illumina® NGS platform of multiple samples, to identify relevant DNA variants.
  • PCR / Sequencing applying Sanger technology, for detailed analysis of sequences of individual genes, exons, or individual polymorphism sites.
  • TaqMan® genotyping assays to analyze SNP status of one to hundreds of SNPs in the genes of interest.
  • Analysis of variable repeats (VNTRs, STRs, etc.).
  • Analysis of expression levels with real-time RT-PCR.

All clinical research support testing is offered at standard research or GLP levels, and is not intended or recommended for patient diagnosis or disease treatment decisions.

ACGT is accredited by the College of American Pathologists (CAP) according to the standards set forth in the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality of our clinical support services and the integrity of our laboratory practices. We welcome any discussion concerning development and validation options for a clinical LDT based on your specific requirements.

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