What is Pharmacogenomics?


Pharmacogenomics is the study of how a person's genetic make-up determines response to drugs. The way a medication affects an individual is often varied and depends, to a certain degree, on genes and variations in those genes. Being able to predict who will respond well to a certain drug or who may get serious side effects is a major goal of pharmacogenomic research. In the future, it will allow physicians to prescribe the most effective medication at the correct dose for each patient.

Genetic Variation

Researchers are continuously working on identifying and naming genetic variations within the human genome. Single nucleotide polymorphisms (SNPs) are the most common genetic variations and consist of one nucleotide change (A, T, C, or G) in a person’s DNA sequence. Much of the research being done focuses on studying the relevant SNPs that have been shown to correlate with specific drugs, particularly looking at drug efficacy, toxicity and dosing.

Pharmacogenomics and Personalized Medicine

Individualized drug therapy based on a person’s unique genetic makeup is desirable because of the variability of patient response to medications and the potential for life-threatening drug toxicities. Adverse drug reactions are one of the leading causes of death in the United States. Dangerous side effects could be greatly reduced if we knew which patients were most likely to respond, or which patients required alternative dosing. If clinicians could better predict which individuals are at risk of suffering drug-related toxicities, while also identifying those most likely to benefit, then the overall care of patients could be improved considerably.

The 1200 Patients Project

The 1200 Patients Project aims to bring pharmacogenomic information, and broad pharmacogenomic testing into routine clinical practice. We believe that patients and providers will not only be eager to begin utilizing genetic information while making prescribing decisions, but that this project will bring about the development of a ‘medical system model’ for personalized medical care. In this model, the genetic information of the patient is incorporated into the clinic visit, allowing a personalized patient-specific pharmacogenomic encounter to occur. Knowledge about genetic susceptibility could allow physicians to choose the best treatments, make patient-specific dose modifications, and avoid therapies that may cause serious side effects. The utilization of this information would allow for more efficient, individualized patient care.