Genomic Enterprise

Definition
 

Pharmacogenomics is the section of genomics that deals with the influence of genetic variation on drug response in patients by correlating gene expression changes and/or Single-Nucleotide Polymorphisms (SNPs) with a drug's efficacy or toxicity. This field has the aim to use genomic data to optimize drug therapy, with respect to the patients' genotype, to ensure maximum drug efficacy with minimal side effects. These approaches are also known as "personalized medicine" or "individualized medicine" - drugs and drug combinations are optimized for the individual's genetic and genomic characteristics. Pharmacogenomics is the whole genome application of pharmacogenetics, which examines the interaction of drugs with single genes.

The impact of phamacogenomics in today's medicine

Some examples of the impact that pharmacogenomics and personalized medicine have in oncology are: 1) Testing for disease-causing mutations in the BRCA1 and  BRCA2 genes, which are implicated in familial breast and ovarian cancer syndromes. The discovery of a disease-causing mutation in a family can inform individuals that are carriers and as to whether they are at higher risk for cancer and may prompt individualized prophylactic therapy including mastectomy and removal of the ovaries. This testing involves complicated personal decisions and it should be analyzed carefully by detailed genetic counseling; 2) Minimal residual disease (MRD) tests that are used to quantify residual cancer, enabling detection of tumor markers before physical signs and symptoms return (predictive tests). This assists physicians in making clinical decisions; 3) Targeted therapy is the use of medications designed to target aberrant molecular pathways in a subset of patients with a given cancer type. One example is the drug Herceptin which is used in the treatment of women with breast cancer in which HER2 protein is over-expressed. Tyrosine kinase inhibitors such as imatinib (Gleevec) have been developed to treat chronic myeloid leukemia (CML), in which the BCR-ABL fusion gene (the product of a reciprocal translocation between chromosome 9 and chromosome 22) is present in >95% of cases and produces hyperactivated abl-driven protein signaling. These medications specifically inhibit this new fusion tyrosine kinase (ABL) protein and are thus a prime example of a drug specifically designed based on the tumor characteristics and  on pathophysiology of the disease.

Companies offering pharmacogenomic services 

GENTRIS

Gentris is a leading global provider of applied clinical pharmacogenomic services (PGx). Gentris helps pharmaceutical companies and clinical research organizations effectively integrate PGx into their clinical drug development programs.

TRANSGENOMIC

Transgenomic is a global biotechnology company that provides unique products and services for automated high sensitivity genetic variation and mutation analysis. Transgenomic services include systems, products, discovery and laboratory testing services to the academic and medical research, clinical laboratory and pharmaceutical markets in the fields of pharmacogenomics and personalized medicine.

RULES-BASED MEDICINE 

Rules-Based Medicine (RBM), the world’s leading multiplexed biomarker testing laboratory, provides comprehensive protein biomarker products and services. RBM’s biomarker testing service provides pre-clinical and clinical researchers with reproducible, quantitative, multiplexed immunoassay data for hundreds of proteins in a cost-effective manner, from a small sample volume and from multiple species.