alexa A High-throughput Real-time PCR Approach to Pharmacogen
ISSN: 2153-0645

Journal of Pharmacogenomics & Pharmacoproteomics
Open Access

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Research Article

A High-throughput Real-time PCR Approach to Pharmacogenomics Studies

Toinette Hartshorne1*, Ferrier Le1, Jordan Lang1, Harrison Leong1, Kathleen Hayashibara1, Dominique Dewolf2, James Elliot1 and Elliot Shelton1

1 Thermo Fisher Scientific, Genomic Applications, South San Francisco, CA, USA

2 Thermo Fisher Scientific, Life Sciences Solution, Saint Aubin, France

*Corresponding Author:
Toinette Hartshorne
Thermo Fisher Scientific, Genomic Applications
180 Oyster Point Blvd., South San Francisco, CA 94061, USA
Tel: 1-650-246-4081
E-mail: [email protected]

Received date: April 09, 2014; Accepted date: May 20, 2014; Published date: May 28, 2014

Citation: Hartshorne T, Le F, Lang J, Leong H, Hayashibara K, et al. (2014) A High-throughput Real-time PCR Approach to Pharmacogenomics Studies. J Pharmacogenomics Pharmacoproteomics 5:133. doi: 10.4172/2153-0645.1000133

Copyright: © 2014 Hartshorne T, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Advances in personalized medicine have led to an increase in pharmacogenomics studies that involve testing individuals for drug metabolism enzyme and transporter gene polymorphisms implicated in drug response. As a consequence, there is a growing demand for affordable, easy to use technologies with fast sample-to-results workflows that can accommodate testing customizable sets of target gene variants and a changeable number of samples. Additionally, data analysis tools are needed to facilitate translation of an individual’s genetic information to their diploid content of gene-level star allele haplotypes, which can be correlated with drug metabolism enzyme phenotypes. Here we describe the development of a comprehensive pharmacogenomics experiments workflow solution to meet this need. High quality data was generated from purified buccal swab DNAs run with TaqMan® SNP genotyping and copy number assays in OpenArray® and 384-well plate formats, respectively, on the QuantStudio™ 12K Flex system. Data analysis was accomplished using TaqMan® Genotyper™ Software to examine SNP genotyping assay results and CopyCaller® Software to examine copy number assay results, followed by translation of this genetic data for individual samples to star allele genotypes using the recently developed AlleleTyper™ Software. The specific TaqMan® SNP Genotyping and Copy Number Assays to gene variants used can be tailored to suit the needs of a given pharmacogenomics study. This low cost, high throughput pharmacogenomics workflow can be completed in a single day, from sample preparation to data analysis.


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