The Science of Pharmacogenomics — PGx / DNA testing

3 Apr

Pharmacogenomics is the study of the role of genetics in drug response.

Pharmacogenomics testing is important because it provides physicians with genetic information that can be used to guide therapeutic decisions, which may mitigate the incidence of costly adverse drug reactions (ADRs) and improve efficacy.

Key Outcomes of Pharmacogenomics Testing

  • Informed therapeutic decisions1
  • Decreased ADRs and related costs1
  • Improved patient health1

The True Costs of Adverse Drug Reactions
In addition to the billions of dollars spent on drug-related morbidity and mortality each year, there are significant “human” costs associated with ADRs:

  • 4th leading cause of death in U.S. (106,000 deaths per year)2
  • 5th leading cause of illness in U.S. (2.2 million hospitalizations per year)2
  • 28% of hospitalized patients have ADRs2
  • 17% of hospitalized children have ADRs3

1 American Medical Association. Pharmacogenomics. Accessed October 13, 2014.

2 Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: A meta-analysis of prospective studies. JAMA. 1998;279(15):1200-1205.

3 Impicciatore P, Choonara I, Clarkson A, Provasi D, Pandolfini C, Bonati M. Incidence of adverse drug reactions in paediatric in/out-patients: a systematic review and meta-analysis of prospective studies. Br J Clin Pharmacol. 2001;52(1):77–83.

Certain genes have been identified as having an effect on drug metabolism and response. Of these, the most common are the P450 (CYP) genes. When a mutation occurs in a P450 (CYP) gene, the regular enzymatic activity that is controlled by this gene is changed, resulting in either a weakened, absent, or hyper enzymatic expression.

This change in enzyme activity is significant because it can impact the metabolism and clearance of many prescribed therapies (see chart below), potentially hindering efficacy and inducing ADRs.

For example, in the case of weakened enzymatic activity, the efficacy of certain drugs will be decreased because they cannot be efficiently converted into their active metabolites. Conversely, in the case of increased enzymatic activity, some drugs will be broken down too rapidly into their active forms, resulting in ADRs.

We can help you get tested … contact me =

John Chandler


DNA - 1


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