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Broadening the Adoption of Pharmacogenomic Testing

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Not all patients respond to the same drugs in the same way.  Several commonly prescribed medications are ineffective in a large proportion of patients they are prescribed to, or cause adverse reactions. The traditional “one size fits all” approach of drug development and use is increasingly giving way to more personalized approaches. Pharmacogenomics (PGx) – how gene variants can influence drug response – offers great potential to improve the likelihood that patients will be prescribed the right drugs for them at the right dose, avoiding wasted time and resources associated with ineffective drugs and preventing potentially dangerous side-effects.  


However, adoption of pharmacogenomic testing in healthcare is still somewhat limited and has yet to reach its potential. Programs such as the Pharmacogenomics Center for Excellence, a joint venture between the University of Pittsburgh and Thermo Fisher Scientific, aim to change this and prove the clinical utility of predictive PGx testing.


Technology Networks recently had the pleasure of speaking to Dr. Philip Empey, associate professor of pharmacy and therapeutics at the University of Pittsburgh and associate director of the University of Pittsburgh/UPMC Institute for Precision Medicine, to learn more about the Center for Excellence he directs and the benefits PGx testing offers patients and providers.


Anna MacDonald (AM): Can you tell us more about the Pharmacogenomics Center of Excellence, its development and its aims? What benefits can programs such as the Center of Excellence provide to patients and clinicians?

Philip Empey (PE): The Pharmacogenomics Center of Excellence is the first academic-industry partnership in the United States to deploy PGx at population scale, combining the resources of a leading academic health system – The University of Pittsburgh Medical Center (UPMC) – and Thermo Fisher Scientific, an industry leader in genomic testing and solutions to advance precision medicine. The vision is to pre-emptively test 150,000 individuals using microarray technology that can be scaled across the health system through a blended research and clinical return-of-results initiative.

The Center of Excellence has three focused goals. One is to develop state-of-the-art PGx methodologies and analytics, including partnering with Thermo Fisher to develop customized array solutions to advance pre-emptive panel-based testing. The second is to further the improvement of participant outcomes through clinical implementation and the demonstration of economic proof points. The third is to educate and advance technology awareness.

Pitt/UPMC and Thermo Fisher are committed to widespread implementation of predictive genomics and we strive to establish a global network of users who share best practices. Ultimately, we plan to demonstrate the value of pre-emptive PGx data.

AM: What have you learned from the PreCISE-Rx initiative? How has this influenced the Pharmacogenomics Center of Excellence?

PE: In 2015, my group at Pitt/UPMC launched the Pharmacogenomics-Guided Care to Improve the Safety and Effectiveness of Medication, or PreCISE-Rx, initiative. Our goal was to implement a simple PGx test to guide the use of anti-platelets – medications used to prevent clotting after cardiac stenting. This initial deployment proved the feasibility of genotype-guided care to improve outcomes. The PreCISE-Rx initiative showed we can accomplish testing, use these data to tailor prescribing, and capture outcomes.

This approach is now standard for care at UPMC and we have tested nearly 4,000 patients. We’ve also integrated test results within the health systems’ electronic health records (EHRs) systems, launched point-of-care clinical decision support, and implemented pharmacist-led services to help clinicians choose the right medications for patients after PGx testing.

This project involving single gene testing formed the foundation for our broader PGx program. With the support of the University, UPMC, and our partners at Thermo Fisher, we built a customized multi-gene test involving 14 genes that can be used to individualize the prescribing of more than 50 medications. By demonstrating the value of pre-emptive, panel-base testing, we are well-positioned to improve medication outcomes for hundreds of thousands of patients.

AM: The Pharmacogenomics Center for Excellence is a collaboration between industry and academia. Can you tell us more about the role of both partners? What has the partnership with Thermo Fisher to establish the Center brought to the work being done that otherwise may not have been accomplished?

PE: The success of the Pharmacogenomics Center of Excellence is made possible by a unique ecosystem of resources, to which each party brings complementary and synergistic skillsets. Collaborative programs like this one are what’s need to drive innovation in the field.

Thermo Fisher’s leadership and innovations in technology – with its broad portfolio of arrays, rich history in PCR and next-generation sequencing, and resources in commercial development, manufacturing, and logistics – advances our ability to deliver precision medicine at a scale greater than what could be achieved if the University of Pittsburgh were to embark on this project alone. Thermo Fisher also shares our vision that to truly advance the field of precision medicine, each stakeholder in the ecosystem – technology innovators, clinicians, health systems, informatic communities, and payers – must align.

The University of Pittsburgh’s School of Pharmacy sits alongside its Clinical and Translational Science Institute (CTSI) and Institute for Precision Medicine, to create robust infrastructure to drive success. Our clinical partner, UPMC, is one of the largest academic health systems in the country. As a truly integrated financial delivery system, it presents the opportunity to drive innovation and understand its impact on value metrics. Our goal is to show improvement in clinical outcomes and economic feasibility that makes sense in the delivery system. If we can prove it here, we can disseminate that knowledge to others.

AM: Which technology or platform is central to the Center’s research and what role has it played thus far in your team’s work in pharmacogenomics? What technology considerations should groups interested in launching pharmacogenomics programs keep in mind?

PE: For the Center of Excellence’s pre-emptive, panel-based testing, we use Thermo Fisher’s PharmacoScan array platform on the GeneTitan instrument. This technology provides the targets we’re looking for and enables us to deploy a forward-thinking strategy that advances PGx.

The array technology has coverage for the targets that meet clinical and research content needs for clinical impact, validation to advance genes and variants into a clinical implementation-ready position when appropriate, and for genotype-phenotype discovery.

We use the PharmacoScan array as our pre-emptive panel workhorse, and then we can fill in with other technologies, such as a reactive platform for rapid testing on more focused targets.

When selecting technologies, what’s most important is that the content is contemporary, it meets our deployment needs (both clinically and on the research side), and that the performance and quality of the genotyping is high to meet performance metrics. Turnaround time is also important. Cost also must be considered carefully, especially when embarking on a project where the goal is to scale to make testing available to every patient.

AM: What do you see in store for the future of PGx? How widespread will it be in the next five/ten years? Could predictive PGx testing become routine in healthcare? For example, a blood or saliva test at birth to predict a patient’s response to multiple drugs?

PE: Understanding what drives variability in drug response is something we should all strive for. We still have a long way to go in terms of getting every patient the right dose of the right medication the first time. Genomics are a key factor for many medication responses – and the data are strong for many drugs.

The challenge lies in determining where to offer genomic testing in a health system. For example, when a patient reaches a certain age, has a triggering diagnosis, or is being prescribed a medication with a recommendation, it may make sense to deploy testing offerings for those patients and to have those results on file. To get to the point we might consider large-scale testing for patients at a certain age but there must be proof to show that investment pays off in a short enough period for it to be viable for the U.S. health system.

I like to think we’ll get to a testing “all patients” or “testing at birth” stage eventually. The ROI of genetic testing at a population scale is one of the things we’re trying to demonstrate at the Center of Excellence. In the near future, however, I could imagine tests being deployed as an incentive for employer health programs, or at a certain age threshold; like we do with colonoscopies or breast cancer screenings.

Testing will become more ubiquitous as costs come down and it becomes easier for us to deploy the data we learn from those tests. To get there, we must educate providers, ensure the data is easy to use and understand, and that it follows patients through the health system. Clinical decision support is also critical. As all those things become more commonplace, I do think we’ll see the data incorporated in clinical care a lot more frequently. Every time you do an implementation, it gets easier.

AM: What has limited greater adoption of PGx testing in healthcare so far? What needs to be done to overcome these clinical implementation barriers and drive forward progress in this area?

PE: There are three factors limiting greater adoption of pharmacogenomic testing in healthcare right now:

1.       Payer coverage and reimbursement: We need to have a broader conversation around the value of having PGx data involving all stakeholders. We need to show that it makes economic sense to test a person once for many things, then reuse that data downstream. It comes down to a question of who bears the cost of that initial test when the results are valuable further downstream. In the last two years, there has been significant progress in this area, with broader coverage policies adopted by Medicare and some payers, so I’m optimistic the value of early testing is slowly coming to light.

2.       Standardization of informatics: Data must be available to use in standardized formats; be portable, interoperable, and easy to find and use. If the data from PGx testing aren’t easily actionable for providers within a health system’s current electronic health records or with decision support, integration and adoption will be slow-going.

3.       Education: We must help providers and patients understand what PGx data means for their care to advance its use in practice. This could be pop-up alerts within a health record for critical recommendation, clinical decision support programs, or education in health sciences curricula or through continuing education solutions. The University of Pittsburgh School of Pharmacy provides high fidelity, competency-based training through our Test2Learn PGx certificate program. There is increasing interest among learners to attain skills pertaining to how to apply precision medicine in practice, and there is a lot still to be done in terms of training. Education is also about awareness. We need to grow the visibility and availability of new technologies to enable cost-effective testing at population scale beyond just health systems. That’s one of the benefits of our partnership with Thermo Fisher – to disseminate innovations and best practices to further advance PGx in the future.

AM: In addition to your work at the Center of Excellence, you’ve been working with other groups to advance their own predictive genomics programs. Can you tell us more about these efforts?

PE: As part of the Center of Excellence’s mission to broaden adoption of predictive genomics, and through our continued partnership with Thermo Fisher, I’ve had the opportunity to meet with groups from around the world to help guide them on their own precision medicine journeys. For instance, we recently met with the Qatar Genome Program to share insights from our experiences at Pitt and UPMC as they undertake a new initiative to accelerate genomic research and clinical applications for predictive genomics for Arab populations.   

Beyond my role within the Pharmacogenomics Center of Excellence and the Pittsburgh Pharmacogenomics Program, I’m proud to be involved in the All of Us research program that makes PGx results available for researchers and soon for participants. I’m also involved in several professional societies where I help to advance education, policy and professional adoption.

AM: What ethical considerations must be made when implementing PGx testing as part of routine care?

PE: Compared to other areas, such as disease-based diagnostic testing of genetic conditions, ethical concerns are less prevalent in PGx testing, but they’re not zero. Providers must be sensitive when it comes to discussing what patients might learn about. There are also unanticipated findings that can result from testing; we might, for example, learn about a condition or disease that has implications for a patient or their family.

From an ethics perspective, a shared decision-making model with the patient is crucial to discuss the benefits and potential risks of testing.

But interestingly, in many situations it’s our patients or research participants who are driving the enthusiasm for PGx. There’s a lot of excitement around trying to decrease the iteration in medication use and not paying for the typical trial-and-error approach. Also, there is an increased access to genetic testing through direct to consumer offerings.  This increased access activates patients for PGx testing. Increasingly, we have patients coming to our clinics saying, “I want to learn more about my medications, especially if I can get the right one as opposed to having to pay for something that may not work or have adverse side effects.”


Dr. Philip Empey was speaking to Anna MacDonald, Science Writer for Technology Networks.