The process of being able to tailor a patient's drug treatment to obtain the best possible effect using his genetic makeup is what scientists involved in pharmacogenomics are trying to achieve. Pharmacogenomics, or pharamacogenetics is the scientific examination of the way an individual's genome affects the efficacy of medication.
Drug response is certainly a very complex phenotype affected by genetic and environmental factors. Nevertheless, the high-throughput technologies like the SNP genotyping arrays and gene expression microarrays permit these genetic factors to be considered on an approach never before possible.
There are two separate components of drug response, both of which can be studied in pharmacogenetic terms. The first component is pharmacokinetics. It is the way the body metabolizes a drug, and which can be estimated with simple genotyping. The polymorphisms in the genes CYP2C19 and CY2D6 are known to influence the rate of metabolism of many drugs. By altering the effective concentration of medications, these polymorphismas can either increase the risk of toxic side effects of a drug or decrease its effectiveness.
The second component is pharmacodynamics. It is how a drug acts to treat the specific disease. Complex diseases from cancer to hypertension are heterogenous in their symptoms and response to drugs. A few to its variation is due to genetic factors. Thus, the underlying cause of the disease can be utilized to decide which drug is best suited for which individual.
The pharmacogenomic profiling for pharmacokinetic information is expected to a lead to a deeper understanding of drug metabolism. However, only a few important polymorphisms are well-known without a role in clinical trial because the predictions that can be made with such information are not accurate. Being able to identify what genetic factors influence the metabolism of a specific drug will result to more nuance prediction about individual reactions. However it requires huge deal of genetic information and large sample of participants, not to mention, the blood drawn at regular intervals to measure drug concentrations.
The same can be said in applying pharmacogenomics to pharmacodynamics. By considering genetic information about a sub-group of patients treated with a particular drug, polymorphisms marking response can be identified. Finding a number of such polymorphism can result to a profile which can be used for prediction.
The application of pharamacogenetics will assist in the discovery, development and rational utilization of drugs. Much of the research will be conducted on understanding the importance of genetic variation in drug-response genes in identifying drug effectiveness and toxicity. The Genomic information in pharmacogenomics is employed in three main applications, namely, gene expression profiling, genotyping, and gene discovery.
At the present, the single nucleotide polymorphism or SNP is the main player in genotyping. The SNPs are the most polymorphic genetic marker. It is estimated that more than 1.4 million SNPs are disseminated throughout the human genome. The significance of pharmacogenomics in development of drug and treatment can be best manifested by producing a few famous examples of areas where genetic polymorphisms have been determined as responsible for the variable response by patients to a certain drug.
Pharmacogenetics has just got started as an area of scientific research. However it has the potential to enhance the way drugs are developed and prescribed.
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