The term "pharmacogenetics" dates to 1962 when Dr. Werner Kalow published "Pharmacogenetics: Heredity and the Response to Drugs."  It is the merger of pharmacology and genetics, a study of how the actions of drugs, and reactions to drugs vary with the patient's genes.  The term is also interchangeable with pharmacogenomics.

Genes determine the traits in every living organism.  In human beings, genes control traits, such as race, hair, eye color, height, weight, gender and even behavior.  Genes are related to the susceptibility of certain diseases.  Genes also affect the outcome of a drug therapy, i.e. genes that encode enzymes in a liver can determine how quickly a drug is removed from the body; thus such gene expression variation may cause differences in individual responses to drugs.  Because of this, pharmacogenetics holds the promise that drugs might one day be tailor-made for individuals and adapted to each person's own genetic makeup.

The anticipated benefits of pharmacogenetics are:

• More powerful medicine
• Better, safer drugs the first time
• More accurate methods of determining appropriate drug dosages
• Advanced screening for diseases
• Better vaccines
• Improvements in the drug discovery and approved process
• A decrease in the overall cost of healthcare

Pharmacogenetics is still in its infancy stage and has many barriers in its development.  One of the major barriers is the complexity of finding gene variations that affect drug responses.  Single nucleotide polymorphisms (SNPs) are DNA sequence variations that occur when a single nucleotide (A,T,C,or G) in the genome sequence is altered. SNPs occur every 100 to 300 bases along the 3-billion-base human genome, therefore millions of SNPs must be identified and analyzed to determine their involvement (if any) in drug responses.  In addition to a SNP variation, recent findings show that gene copy number variation also plays an important role in drug responses; this becomes a new area of exploration.  Further complicating the process is our limited knowledge of which genes are involved with each drug response. Since many genes are likely to influence responses, obtaining the big picture on the impact of gene variations is highly time-consuming and complicated.

Applied Genes provides services of technologies that are primarily used in pharmacogenetics, which can help you to study SNPs, copy number variations, gene expression and nucleotide sequences.  The service will expedite your discovery and advance our knowledge pharmacogenetics, which leads to a healthy life of human beings.

1. Shi MM. Clin Chem. 2001 Feb;47(2):164-72. Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies.