Pharmacogenomics is the study of genetic variations specific to an individual that influence drug efficacy, providing personalized and cost effective drug therapy based solely on a patient's clinical information. This field combines pharmacology, the science of drugs, and genomics, the science of the human genome, in an effort to create medications that are designed to best react with a person's genetic makeup.
Pharmacogenomics (PGx) continues to have widespread impact on the practice of modern medicine. Content specific pharmacogenomic information is now being offered in computerized provider order entry (CPOE) systems. These systems are becoming more intuitive and interoperable providing clinicians with more knowledge to help in the decision making process (Ishikawa, T. 2013). Based on phenotypic information specific to each patient, clinicians are offered guidelines and recommendations to provide optimum drug dosing, efficacy, and at the same time minimizing side effects and costs. Through testing and with the help of the Humane Genome Project, pharmacogenomics is bringing patients personalized healthcare. In the end, pharmacogenomics will mean that time and money is saved, because doctors will not have to cure by trial and error, but by testing to see which specific drug would be best for the patient.
Challenging components to pharmacogenomic therapy still remain, among them physician acceptance and the complexity of pharmacogenomic information which will require further education and training.


One way that Pharmacogenomics is being used is with drug distribution for diseases, such as HIV and Breast Cancer. Each disease had a drug that was originally a one size fits all, Ziagen for HIV and Herceptin for Breast Cancer, with both medications causing negative side effects for certain types of people. Through testing, pharmacogenomic information has been able to recognize that genetic makeups of patients would react negatively with certain aspects of both drugs.
As the field of Pharmacogenomics grows, more drugs are able to be linked with genetic variants that cause negative side effects for diseases such as Alzheimer's disease, various cancers, and asthma. Pharmacogenomics has brought the ability to test a patient's genetic makeup to look for a certain genetic variant that causes negative reactions to the medication and base future drug recommendations on those genetic variants.


The image above is a very basic breakdown of what the field of pharmogenomics is accomplishing. All the steps are similar to how a visit to a doctor is conducted now, except for the second to last step. At this step, the doctor bases the prescription of a drug off of the patient's genetic makeup and the knowledge of which genetic variants cause negative side effects with certain treatments.
Pharmacogenomic applications will improve patient compliance and reduce overall costs ensuring a successful course of therapy. Evidence based medicine with a personalized component will allow clinicians to make better and more informed decisions.Applicable challenges also exist, disseminating pharmacogenomic knowledge to clinicians continues to be demanding. Clinicians have limited training in interpreting and applying results, which could negatively impact patient safety. Continuing medical education opportunities are essential in promoting this exciting new specialty that is revolutionizing medical research. Interest continues to drive the incorporation of PGx into the CPOE user domain (Overby, C.L. 2015). Time constraints in evaluating patient EHRs with a PGx interface and the complexity of its applications will require more research.

Web Resources:

Journals of Advancements in Pharmacogenomics -
Articles of current Pharmacogenomic Technology-

Related Terms:

Personalized Medicine
Humane Genome Project
Predictive Pharmacogenomics


Ishikawa, T., Kim, R.B., Konig, J., & ebrary, I. (2013). Pharmacogenetics of human drug transporters: Clinical impacts (1st ed.). Hoboken, N.J.: Wiley
Overby C.L. Devine, E.B., Abernathy N., McCune J.S., Tarczy-Hornoch P., (2015) Making pharmacogenomics-based-prescribing aerts more effective: A scenario based pilot study with physicians. Journal of Biomedical Informatics, Volume 55, 1 june 2015.