What is Pharmacogenetics?

Tricia Christensen
Tricia Christensen

Pharmacogenetics is promising area of science where gene types and variations are studied to determine likelihood of adverse reactions or positive response to pharmaceutical or drug treatments. This research is usually directly associated with another field called pharmacogenomics, which is the development of drugs based on specific gene variations. There is so much interplay between these two fields of scientific inquiry that they are often lumped together or the terms of each is interchanged with the other. Whether pharmacogenetics or pharmacogenomics is mentioned, considerable excitement is generated because both scientific areas point the way toward more effective drug treatments.

Some patients with HIV carry predictive markers showing how well they may respond to combination antiretroviral therapy.
Some patients with HIV carry predictive markers showing how well they may respond to combination antiretroviral therapy.

There are many people who can relate to the experience of trying a medication said to treat a certain condition and having an extreme adverse response to it or not responding to it at all. Anyone who has ever taken an antidepressant may have had to try several of these drugs out before finding one that works or that doesn’t cause undesirable side effects. Many medicines of a variety of types can have severely risky side effects that occur rarely, but that doctors would clearly want to avoid. The basic idea behind pharmacogenetics is that gene variations may hold the key to predicting likelihood of favorable, negative or no response, and thus evaluating those variations could lead to determinations on which drugs to prescribe for people.

The effectiveness and side effects of any antidepressant can differ greatly from patient to patient.
The effectiveness and side effects of any antidepressant can differ greatly from patient to patient.

In the simplest terms, in pharmacogenetics, researchers might find that gene variation X makes people more likely to develop a serious rash when they take a medication. Instead of simply prescribing that medicine indiscriminately, with this knowledge, doctors could first perform a genetic test to determine if a person has variation X. If found, doctors could either prescribe other medications that would keep a rash from developing or they could look for a different drug that won’t cause this reaction.

Prozac -- the brandname for fluoxetine hydrochloride -- is a commonly prescribed antidepressant.
Prozac -- the brandname for fluoxetine hydrochloride -- is a commonly prescribed antidepressant.

As yet, there aren’t that many widespread applications of pharmacogenetics. A few drugs have been analyzed against genes that appear to affect their outcome, and this has helped to better tailor drug therapy in limited instances for conditions like HIV, hepatitis C and breast cancer. These studies only apply to a very small number of medicines though, and not to all medicines that treat these conditions.

The other side of pharmacogenetics research is pharmacogenomics. Instead of studying the gene variation reactions to available drugs, pharmacogenomics attempts to apply information about genetic variation to new drug development. The hope is the eventual development of gene-based personalized treatments that will most accurately target diseases for people of specific genetic types.

People look with hopefulness to both pharmacogenetics and pharmacogenomics because there are often more side effects or ineffectiveness of drugs than what is recognized. Some people have unexplained adverse reactions, and if gene variation becomes a way to explain this, it could save time, dangerous medical conditions, and money. It’s thought these two areas of research will become increasingly important and utilized by drug companies, doctors and patients in the future.

Genetic typing, in conjunction with mammograms and other testing, may be used to diagnose breast cancer.
Genetic typing, in conjunction with mammograms and other testing, may be used to diagnose breast cancer.
Tricia Christensen
Tricia Christensen

Tricia has a Literature degree from Sonoma State University and has been a frequent wiseGEEK contributor for many years. She is especially passionate about reading and writing, although her other interests include medicine, art, film, history, politics, ethics, and religion. Tricia lives in Northern California and is currently working on her first novel.

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