Pharmacogenetics Newsletter

Volume 1, Issue 6, 06/04/2009

Question

What is a single nucleotide polymorphism (SNP) and how does it impact drug therapy?

Answer

In 2003 the Human Genome Project was completed and the mapping of the entire human DNA was made available to the public.(1)  As a result, the National Institutes of Health's (NIH) National Human Genome Research Institute shared its vision for human research for the purposes of improving health.(2)  Within this vision was the goal to use genomic-based approaches for the prediction of drug response.(2)  The motivation behind this particular goal is the genetic variations that exist between individuals.  Some of these genetic variations are subtle and are largely neutral in their manifestation.  However some genetic variations can be observed when a stimulus from the environment (such as a medication) is introduced and elicits a response that is exaggerated or a deviation from the norm.  One of the most common genetic polymorphisms (variations) described in the literature and now being recognized in clinical practice is single nucleotide polymorphisms (SNP; often pronounced, "Snips").  These polymorphisms can directly influence a patient's response to drug therapy.  There are over 1 million SNPs in the human genome that occur at a frequency of 1% or greater in the general population.(3)  What is a SNP and how does it result in changes in drug response?

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