New Digital PCR Application Identifies Drug Metabolizing Phenotypes

Media Contact Information:
Mauricio Minotta
Carlsbad, CA, USA
+1 760 929 2456

New Digital PCR Application Identifies Drug Metabolizing Phenotypes
Comprehensive approach elucidates allele-specific copy numbers for profile of CYP2D6 gene

CARLSBAD, Calif. – Nov. 14, 2014 – A new digital PCR (dPCR) application for the QuantStudio 3D Digital PCR System enables researchers to accurately phenotype the CYP2D6 gene, a key indicator of drug metabolism. Thermo Fisher Scientific announced the new application, which enhances its extensive offering in the pharmacogenomics (PGx) field, during the 2014 Association for Molecular Pathology conference in National Harbor, Md.

This latest application enables researchers to perform allele-specific copy number analysis on the hundreds of QuantStudio 3D Digital PCR systems used in labs worldwide. Combined with the existing QuantStudio12K Flex Real-Time PCR System, this comprehensive solution delivers a cost-effective method to reliably characterize drug metabolism enzymes (DME) genes such as CYP2D6 – a highly polymorphic gene whose expression is implicated in metabolizing roughly 85 percent of medications through Cytochrome P450 pathway.

The new solution combines TaqMan assays that are initially run on the QuantStudio12K Flex Real-Time PCR System to efficiently determine the copy number of DME genes. Adding QuantStudio 3D Digital PCR System to the workflow, however, enables researchers to then precisely determine specific allele composition of samples with duplications in the CYP2D6 gene in less than a day. Aside from next generation sequencing, there has not been a direct way to distinguish between heterozygous alleles with unique polymorphisms.

“Determining the specific alleles that are duplicated in samples characterized for PGx applications have proven to be a blind spot for the industry, creating a barrier that’s kept clinical researchers from accurately identifying the most effective drug dosages,” said Chris Linthwaite, head of Genetic  Sciences Research for Thermo Fisher Scientific.  “Our newest digital PCR solution helps overcome this hurdle without the need for substantial capital investment.”   

More information on the new application can be found in the presentation CYP2D6 Allele Specific Copy Number Analysis Using TaqMan SNP Genotyping Assays And Digital PCR, or by visiting the Thermo Fisher conference booth #717 at the 2014 Association for Molecular Pathology conference (AMP) in National Harbor, Md., Nov. 12–15, 2014.

The QuantStudio 3D Digital PCR and QuantStudio12K Flex Real-Time PCR systems are for Research Use Only and are not intended for diagnostic procedures.

About Thermo Fisher Scientific
Thermo Fisher Scientific Inc. is the world leader in serving science, with revenues of $17 billion and 50,000 employees in 50 countries. Our mission is to enable our customers to make the world healthier, cleaner and safer. We help our customers accelerate life sciences research, solve complex analytical challenges, improve patient diagnostics and increase laboratory productivity. Through our four premier brands – Thermo Scientific, Life Technologies, Fisher Scientific and Unity Lab Services – we offer an unmatched combination of innovative technologies, purchasing convenience and comprehensive support. For more information, please visit