Validation Study Confirms Value of TaqMan® Drug Metabolism Genotyping Assays in Pharmacogenetic and Complex Disease Research

Today at the 56th annual meeting of the American Society of Human Genetics, scientists from Applied Biosystems, an Applera Corporation business, and SAIC-Frederick, Inc. presented data showing that the TaqMan® Drug Metabolism Genotyping Assays provide higher accuracy than other methodologies in identifying variation in genes that code for drug metabolism enzymes.

Identifying these variations is important in both drug development and clinical research as they are associated with certain diseases such as cancer and have been shown to significantly impact drug efficacy.

Robert Welch, Deputy Director of the Core Genotyping Facility, a contractor operated facility run by SAIC-Frederick, Inc. for the National Cancer Institute, presented the data demonstrating the use of approximately 2,400 markers from the TaqMan Drug Metabolism Enzyme panel in examining genetic variation across the International HapMap Project and SNP500 Cancer populations.

The results of this work demonstrate how these assays were measured on reproducibility, signal intensity, and the ability to make robust genotype calls. Reference data from this study will be publicly available on the National Cancer Institute’s SNP500Cancer website providing information on observed minor allele frequencies, context sequences, and assay ordering information.

“Genes that code for drug metabolizing enzymes represent some of the most important genes in drug development and clinical research as they directly impact drug safety and effectiveness,” said Dennis Gilbert, Ph.D., chief scientific officer, Applied Biosystems. “For the vision of personalized medicine to be realized, scientists need more advanced tools and reference data that enable them to execute more effective clinical research studies examining genetic variation in drug metabolizing genes.”

Applied Biosystems today also announced the availability of validation data for the TaqMan Drug Metabolism Genotyping Assays through the Pharmacogenomics Knowledge Base, a publicly available Internet research tool that aids researchers in understanding how genetic variation among individuals contributes to differences in reactions to drugs. Providing this data through public databases provides the scientific community with additional reference data that is expected to help them successfully conduct pharmacogenetic studies.

“The availability of information on validated genotyping assays for variants of relevance in pharmacogenetics research through the PharmGKB website enables researchers to expedite the design and execution of genetic studies correlating genotype to drug efficacy or toxicity” said Dr. Teri Klein, Director of the PharmGKB project at Stanford University. “This new data from Applied Biosystems contributes to our goals of supporting the NIH Pharmacogenetics Research Network and establishing a public resource of information about the relationships among drugs, diseases and genes.”