Pharmacogenomics for the primary care provider: Why should we care?

Author and Disclosure Information



Since the human genome was sequenced in 2000, the American public has continued to hold hope that our growing understanding of genetics will revolutionize the practice of medicine.

See related article

One way genetics promises to improve the quality and value of health care is in personalized medicine, by helping us tailor treatment to a person’s individual genetic makeup. One such approach is called pharmacogenomics.

Pharmacogenomics uses knowledge of a person’s genetics to understand how a particular drug will work, or not work, in his or her body. For instance, some people might carry genes that make them more sensitive than average to a drug, and therefore they would require a lower dose. Others might have genes that make them resistant to the drug, meaning the drug is ineffective unless they receive a higher dose.

Adverse drug reactions are a leading cause of death in hospitalized patients in the United States and are responsible for billions of dollars in health care costs.1,2 Our current practice of prescribing for adult patients is largely trial-and-error, with the same dose given to all patients, in many cases with little regard even to sex, height, or weight.

Pharmacogenomics promises to change this way of prescribing to a customized approach that uses genetic information to predict an individual’s response to medications. It is one piece of an overall initiative to personalize patient care based on the patient’s individual characteristics and preferences.


If personalized medicine has promised to improve the quality and value of health care for our patients, why have we been so slow to adopt this information in clinical practice?

The usual barriers to clinical adoption certainly exist. We need further studies to determine whether genetic-based prescribing is truly valid, and for which patient populations. We need to determine whether this approach is cost-effective and better than the current standard of care. We need to work on payment options.

However, one of the largest barriers for busy primary care physicians is the lack of time to keep up with new information. Many practicing physicians were taught little about formal genetics in medical school. The body of scientific literature on pharmacogenomics is fragmented, and it crosses disease states and specialties, making it difficult to unite. Given the breadth of diseases treated and drugs prescribed by primary care physicians, it is unrealistic for most to keep track of the vast body of literature of pharmacogenomic testing and to decipher how to apply this to clinical practice.

In this issue of the Journal, Kitzmiller et al3 provide one solution to this problem, giving an overview of pharmacogenomic applications that might be pertinent to practicing physicians. However, as we try to make pharmacogenomics accessible to busy physicians, we need other solutions to integrate pharmacogenomic information efficiently into the clinical work flow. One approach might be to build pharmacogenomics into the electronic medical record. We can also store the integrated information in research databases and provide clinical recommendations on Internet sites such as www.pharmgkb.org, and we can develop applications to run on cell phones and iPads.

Next Article:

Dronedarone for atrial fibrillation: How does it compare with amiodarone?

Related Articles