Pharmacogenetic Services

Eurofins – Professional Partner in Pharmacogenetics

Pharmacogenetics – Our Expertise

Pharmacogenetic analysis of the effects of pharmaceutical compounds helps to realize the concept of individualized drug therapy or personalized medicine.

Pharmacogenetics and Relevant Targets

Pharmacogenetics deals with the question, why patients with identical disorders react in a completely different way to an identical drug treatment. While some patients respond in the predicted way, others show no response at all (non-responders). A third group of patients experiences severe adverse effects under drug treatment which makes the medication process hazardous.

These differences in drug responses are largely caused by genetic polymorphisms, mostly by single nucleotide polymorphisms (SNPs) and combinations of two or more SNPs. Pharmacogenetics aims at predicting responders/non-responders to certain drugs and at identifying individuals at increased risk for adverse drug reactions based on variations in relevant genes. Genetic variability is seen both in the area of pharmacokinetics (absorption, distribution, metabolism and excretion, ADME) and in the area of pharmacodynamics (drug effects). For example genetic variations can influence the activity or have an effect on the expression of the following proteins:

• Drug metabolizing enzymes, DMEs (Phase I enzymes/Cytochrome P450 enzymes, e.g. CYP2D6; Phase II enzymes, e.g. N-acetyl transferases
• Drug transporters (Solute Carrier (SLC) – and ATP Binding Cassette (ABC) – transporters, e.g. organic cation transporters, OCTs, as members of the SLC family)
• Drug receptors (ligand controlled ion channels or class 1 receptors, e.g. glutamate receptor; G-protein coupled receptors (GPCRs) or class 2 receptors, e.g. ß-receptor; enzymatic receptors, e.g. insulin receptor; receptors regulating gene expression, e.g. steroid hormone receptor).
• G-proteins, e.g. GNAS1 or GNB3

The figure below shows the pathways including positions of genes which are relevant for drug response and drug effects:

Eurofins Medigenomix is offering analysis of all relevant genes, including analysis of definite SNPs within these genes or the analysis of the entire gene of interest including all exons, introns and regulatory regions, like promoters, enhancers and 5’-/3’- untranslated regions.

One Focus: Analysis of G-Proteins

Eurofins Medigenomix offers analysis of GTP-binding proteins or G-proteins. As these proteins play a central role in cellular signal transduction, their functional variations have an enormous impact upon drug efficacy and the natural course of many different diseases, like infections, neurological diseases or cancer.

Analysis of G-Proteins coding genes allows prediction on:

• Response to a wide range of drugs which inhibit or activate GPCRs
• Response to therapy with anti-depressants
• Efficacy of anti-hypertensive compounds
• Response to medication against obesity, e.g. Reductil – sibutramine
• Response to anti-cancer therapies and risk of relapse

Based on this approach, Professor Siffert’s team at the Institute of Pharmacogenetics, University of Essen, Medical School, identified patterns of genes and genetic polymorphisms, which allow prediction of drug effects at a new level of precision. The associated genetic tests have been validated in clinical trials and are subject to issued patents and pending patent applications.

Eurofins Medigenomix is offering expert advice on evaluation and Interpretation of results and scientific consultation with support by Professor Siffert.

Application of Pharmacogenetics

In patients the response rate to drugs lie in the range of approximately only 60%, in oncology mostly response rates are even significantly lower. Aside some patients show severe side effects on drug treatment. More precise prediction of responders and of patients, which show specific side effects allow individualized drug therapy.  There are clear benefits for patients and physicians, as well as for pharmaceutical companies, e.g. cost savings due to lower research expenses or the possibility for repositioning and re-evaluation of failed drugs. Concerning pharmacogenetic analysis - analysis of genes which are relevant for drug response and drug effects -there are different fields of applications in the pharmaceutical industry:

• Identification of responders/non-responders in phase I-IV clinical trials
• Detection of genotype-dependent side effects
• Identification of individuals at risk for adverse drug reactions
• Recruitment of responders for phase II-III clinical trials
• Genotype-based, individualized dosage adjustment
• Development of new indications for already approved drugs
• Re-evaluation/repositioning of failed clinical studies or drugs
• Discovery of new principles of action for drugs both at the preclinical and clinical level

Pharmacogenetic and Genetic Analysis Services

Eurofins Medigenomix has long term experience in different methods/techniques of genetic analysis, which are relevant for the entire drug development process, including all phases of clinical trials.

Our portfolio includes the following services:

• Large scale DNA and RNA extraction from different sources like  blood samples, buccal swaps or tissue samples
• GLP-compliant genotyping and sequencing
• SNP discovery, mutation detection
• Analysis of complete target/candidate genes
• Assay development
• Expression analysis
• Scientific consultation during planning, set-up and  implementation of pharmacogenetic analysis in clinical trials
• Expert advice on evaluation and interpretation of results
• GLP-grade documentation (study plan and final report)
• Project management

In addition to analysis of pharmacogenetically relevant genes, Eurofins Medigenomix offers likewise analysis of genes, which play an important role in clinical diagnostics, e.g. genes relevant for lactose intolerance/lactase persistence, for breast cancer or for progressive lung disease (alpha-1-antitrypsin (AAT) deficiency).

Technical Equipment

Eurofins Medigenomix is equipped with the latest technical devices for high throughput analysis allowing short turn around times. Based on our equipment, our service portfolio and on constant investment in our competent personnel we contribute to make drug development and therapy safer and more efficient. 

Quality Management System

Eurofins Medigenomix is certified according to ISO EN 9001:2000. For the fields of Forensic Genetics, Veterinary Diagnostics and Food Authenticity Testing we are accredited according to ISO 17025:2005. We are consistently audited by clients from the pharmaceutical industry. With a robust quality management system in place inclusive SOPs for all workflows, validated processes and equipment, established QC and QA systems, and with our team of well trained and highly qualified specialists, we can guarantee the highest quality of our services.

Contact:

Please feel free to discuss your project or study with us:

Phone: +49 8092 8289 200

Email: pharmacogenetics@medigenomix.de