Could Preemptive Pharmacogenomic Testing Emerge as an MTM Best Practice?


Pharmacists and physicians can now use pharmacogenomic test results to help choose safer and more effective medications for their patients.

Advancement in DNA testing is occurring at an astonishing rate. Genetic lab testing companies are reimagining the data gathered by the Human Genome Project in exciting new ways. The Human Genome Project was a $3-billion endeavor started in 1990. It was expected to take 15 years to complete, but due to technologic advances, finished in 13 years.

President Clinton passed legislation in 2000 that prevented the patenting of the genome sequence. Although this move cost drug companies an estimated $50 billion, it allowed researchers to freely access the sequence data. Modern technology is now making genomic testing possible for a fraction of the time and cost. Genotype testing can now be completed through a noninvasive cheek swab and the results can be analyzed in 3 to 5 business days.

Genetic testing has come a long way since completion of the project. Now pharmacists and physicians can use pharmacogenomic test results to help choose safer and more effective medications for their patients. An article recently posted on Crain’s Chicago Business website featured a physician clinic in Illinois that is doing preemptive genotyping: NorthShore University’s HealthSystems clinic is building a program that will screen patients and use DNA test results to guide therapies.1

Another recent study, this one published in the Journal of Medical Economics and conducted at the University of Utah, used cytochrome P450 pharmacogenetic profiling in clinical decision making for elderly patients. The study results found that the hospitalization rate of the genotype-tested group was 6.3 percentage points lower than the untested cohort: 9.8% versus 16.1%, respectively. The estimated potential cost savings was $218 (mean) in the genotype-tested group.2 The study also found that among the health care providers of the genotype-tested group, 95% of providers found the test “helpful” and 46% followed the clinical decision support tool recommendations for therapy changes. The Mayo Clinic is conducting similar studies on the effectiveness of preemptive genotyping, developing clinical decision-making support tools of its own and planning integration of test results into its electronic medical record (EMR).3

These studies show the promising opportunities that exist within the field of pharmacogenomic testing. Pharmacy can take advantage of this new opportunity. Pharmacists are undoubtedly the pharmacokinetic experts and the most educated health care providers in regard to the cytochrome P450 system. Preemptive genotyping would make a nice addition to a pharmacy’s list of service offerings and point-of-care testing panel.

Genotyping: The Potential Influence on Pharmacy Practice

A clinical consultant pharmacist could use pharmacogenomic testing to guide therapy decisions and decrease drug—drug interactions. This has the potential to save countless health care dollars lost to ineffective medication use, adverse drug events, and hospital readmissions.

There are also financial benefits for the testing pharmacy. Looking at pharmacogenomic testing from a medication therapy management (MTM) perspective, one can imagine the usefulness of integrating genomic testing into a patient’s comprehensive medication review. The pharmacist would have access to the patient’s genotype panel and be able to make specific evidence-based recommendations to improve patient care. Most Medicare patients will have no out-of-pocket expense for the test, as Medicare is currently fully reimbursing for it. The pharmacist would be eligible to receive an administration fee from the lab company for providing and helping the physician to order the test, plus be able to bill for the clinical MTM intervention.

Pharmacists can promote the usefulness of genomic testing by helping physicians understand the implications of the test and become early adopters of this new technology. Genotyping can also help prevent physician “trial-and-error prescribing.”4

One common example of the impact of pharmacogenomic testing is the poor metabolizer of 2C19 who gets a new prescription for clopidogrel after a myocardial infarction. Armed with a patient’s genetic profile, a pharmacist could see clopidogrel would not be the best choice for a patient who is a poor metabolizer of the drug. The pharmacist could alert the physician to the potential treatment failure and recommend an alternative therapy. This intervention may prevent a secondary hospitalization due to nontherapeutic anticoagulation and save health care dollars.

The idea of using preemptive genotyping to supplement pharmacokinetic knowledge excites me. Organizations such as Mayo Clinic and NorthShore University clinics are paving the way by offering tests that improve patient care. In the future, I hope genotype testing will become a standard of pharmacy practice because it could prove especially useful during an MTM intervention.

Evidence of Better Patient Outcomes from Pharmacogenomic Testing

● Proven cost savings in elderly patients

● Help in predicting and preventing adverse drug reactions

● Decreased hospitalizations due to treatment failure

● Prevention of “trial-and-error” prescribing

Advancements in technology will continue to decrease testing costs and provide faster test turnaround time; broad use and implementation of pharmacogenetic testing will flourish. Pharmacists who become early adopters will be well positioned to offer point-of-care testing, counseling services, and integration of genomic tests into their MTM services. Using genotype testing results as a guide, pharmacists can help decrease health care spend by providing data-driven recommendations for physicians.

Pharmacists have more training in absorption, distribution, metabolism, and excretion of medication than any other specialists. It makes sense that pharmacy should oversee appropriate use of genetic testing. Pharmacists are the experts on medication safety and effectiveness, and should be ready to take on the role of personalized medication consultants. Pharmacists can take initiative by educating providers on appropriate use and interpretation of genetic test results.

Innovation is essential if pharmacy wants to act on new clinical service opportunities and earn a seat at tomorrow’s health care table. We need to be proactive in seeking out new niches. I believe that a pharmacist who sees value in innovative programs, such as pharmacogenetic testing,z will help advance the profession. As more data become available from studies such as the one at Mayo Clinic, testing costs will decrease and EMR integration issues will get resolved. In the future, interpreting a patient’s genetic profile will become as ingrained into pharmacy practice as checking an allergy profile.

This article is published in collaboration with the Directions in Pharmacy CE Conference program.

Blair Green Thielemier, PharmD, is an independent medication therapy management consultant pharmacist. She is the founder of BT Pharmacy Consulting, LLC, and works with pharmacists to create and build clinical service programs. More information about Dr. Thielemier and BT Pharmacy Consulting, LLC, can be found at


  • Schorsch K. A clinic that will test your DNA before prescribing treatment. Crain's Chicago Business website. Published April 11, 2015. Accessed January 2, 2016.
  • Brixner D, Biltaji E, Bress A, et al. The effect of pharmacogenetic profiling with a clinical decision support tool on healthcare resource utilization and estimated costs in the elderly exposed to polypharmacy. J Med Econ. 2015; Oct 19:1-16.
  • Bielinski SJ, Olson JE, Pathak J, et al. Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time: using genomic data to individualize treatment protocol. Mayo Clin Proc. 2014;89(1):25-33. doi: 10.1016/j.mayocp.2013.10.021.
  • Kessler D. Do doctors practice defensive medicine? Quart J Econ. 1996;111(2):353-390.

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