Pharmacogenomic testing is still limited, despite ample research, the existence of guidelines, and the emerging evidence it can help patients. Further, panels can be costly and insurance coverage variable, and providers need guidance—from pharmacists, the lab, decision support alerts—in knowing what and when to order and in understanding the results.
According to Ann Moyer, M.D., Ph.D., Co-Director of the Personalized Genomics Laboratory and Assistant Professor of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota, “We have to have the information readily available when a patient needs it. It can be challenging to have our electronic health record provide results as patients move.”
Dr. Moyer and Larisa Cavallari, PharmD, of the University of Florida, spoke on pharmacogenomics at the Association for Molecular Pathology meeting last year and with CAP Today recently. “Right now,” Dr. Moyer says, “the best thing about pharmacogenomics is that there is a lot of evidence that a number of genes impact drug response and have the ability and the potential to help our patients.”
In 2003, Mayo Clinic began by testing CYP2D6. Its menu expanded one gene at a time until it offered more than 20 single-gene tests, which meant many separate workflows. With high-throughput SNP genotyping technology now available and more affordable, Mayo Medical Laboratories combined more than 14 workflows into one streamlined workflow. This has reduced the costs of testing and freed up technologists for other work.
“Panels are justified by the fact that many patients are taking multiple medications, and some drugs are impacted by variants in multiple genes,” Dr. Moyer says. “We might as well test for all available genes when we need the first one. The cost of running the test and resulting out an entire panel is about the same as for a single gene.” For panel-based preemptive testing (performed before the patient needs a medication) to become a reality, however, insurers would need to be willing to pay for a whole panel even if only one gene is needed at that time, she says.
“Pharmacogenomics is a bit different than many other genetic tests. We are not going to be uncovering something that the patient would not want to know. Although we can test multiple genes simultaneously, some providers or patients do not want information on all of the genes offered. Therefore, we continue to offer single-gene tests where unneeded results are masked.” She and colleagues collaborated with their IT staff to build in-house software for that purpose. They also worked to enhance reporting capabilities.
Mayo is also forging ahead with the Mayo RIGHT 10k project, a preemptive genotyping study that Dr. Moyer calls “research with clinical return of results.” Its goal is to assess the impact of pharmacogenomic testing in clinical practice, including on provider workflows and patient outcomes. Implementing this study will allow the practice to establish the systems and processes needed for preemptive testing to be effective.
Subjects are 10,000 participants in the Mayo Clinic Biobank. “Biobank participants consist of healthy people and people with diseases, all of whom get care at Mayo,” Dr. Moyer explains. Patients in the Biobank, many of whom are in their 50s and 60s but some of whom are younger, are followed and have consented to have their medical data used for research.
“This is a fun space to be working in right now,” Dr. Moyer says. “It has the potential to benefit patients. We just have to figure out the logistics to make that happen.”