Pharmacogenetics is the study of inter-individual variations in DNA sequence related to drug response.
DNAVision, a leading global provider of applied pharmacogenetic and pharmacogenomic services, helps pharmaceutical companies and clinical research organizations effectively integrate pharmacogenetics into their drug development program and thus deliver safer, more effective products to the market more quickly.
Brochure: SNP genotyping at DNAVision
Both discovery and clinical genotyping services are available at a very low cost per single nucleotide polymorphism (SNP). After identifying candidate genes or regions of interest using whole genome technologies, scientists may test specific genes associated with disease or drug response using targeted genotyping solutions from Affymetrix, Illumina or focused multiplex assays using SNPlex technology from Applied Biosystems or other custom SNP genotyping solutions like (pyrosequencing, sequencing, TaqMan, dHPLC, Snapshot, Luminex...).
To guarantee the quality of our results, we comply with the international drug development standards required by regulatory authorities. We are the first laboratory in Europe to be ISO17025 accredited and GLP certified in pharmacogenetics and pharmacogenomics. We are also CLIA registered.
Whole Genome GenotypingDNAVision uses the high density Affymetrix Mapping arrays to assay as many as 1,800,000 SNPs from only 500 ng of genomic DNA per array. Each SNP on an array is represented by up to 40 oligonucleotide probes, increasing the accuracy of the genotyping call. The polymorphisms on the latest SNP 6.0 array set are distributed randomly across the genome, with a median spacing of 0,7kb. The high density of the markers permits high resolution whole genome association studies as well as fine structure mapping for chromosomal copy number changes.
DNAVision is the first european service provider to offer testing on both 100K, 500K, SNP 5.0 and SNP 6.0 Array Sets. We have scanned thousands of mapping arrays, generating billions of genotype calls. DNAVision scientists work closely with both Affymetrix and our clients to optimize genotyping protocols resulting in increased call rates.
DNAVision offers genotyping services for up to 20,000 SNPs using Affymetrix GeneChip® Application-Specific Fixed Assays. These assays incorporate Molecular Inversion Probe (MIP) technology originally developed at ParAllele Biosciences. MIPs are gene-specific, linear oligonucleotides that contain sequence complementary to the genomic DNA surrounding a polymorphism of interest. Following hybridization, a single nucleotide gap in the MIP sequence is filled in an allele-specific reaction that circularizes the molecule and enables amplification. Allele-specific targets are labeled with nucleotide-specific, fluorescent-dye labeled primers and hybridized to microarrays. The relative intensity of fluorescent dye is used to calculate the genotype call.
Affymetrix offers several MIP technology assays that focus on specific disease areas or other targeted genotyping applications, including: SNPs associated with drug metabolism, excretion and toxicology (DME/T); SNPs associated with inflammation response and immunobiology; cSNP panels of amino-acid changing SNPs, which can be directly correlated to gene functions and biological pathways; and SNPs appropriate for linkage mapping studies or admixture mapping studies.
DNAVision has expertise to conduct small numbers (1-500) SNPs analyses using different technologies in support of clinical trials or research projects. For each project, we validate each SNP detection according ICH guidelines. A validation report is realized before project starting.
At DNAVision, you have access to the following technologies for SNP analyses:
All major pharmaceutical companies are conducting pharmacogenetic research and are applying pharmacogenetics as a valuable tool in drug development. The number of submissions to the Food and Drug Administration (FDA) and European Agency for the Evaluation of Medicinal Products (EMEA) involving pharmacogenetics is steadily increasing. Drugs for which pharmacogenetic profiling of patients before treatment is highly recommended have been approved and marketed. The development of drugs based on pharmacogenetic testing can help to open up new market segments and to identify new target groups of patients. Following the new guidance for industry on the submission of pharmacogenetic data in clinical drug development issued by the FDA in March 2005 , pharmacogenetics becomes a further standard component of drug development in the near future.
FDA database entries of INDs and NDAs involving pharmacogenetics. Modified from: Lawrence J. Lesko, Director, CDER, FDA. Presentation at the DIA 4th Pharmacogenetics Workshop – Moving Towards Clinical Application, 29–30 October 2003, London, UK.
At present, pharmacogenetic testing is mostly applied to:
EMEA/CPMP/3070/01: Position paper on terminology in pharmacogenetics