Advancing Pharmacogenomics (PGx) and Realizing Its Clinical Promise Through Standards & Administrative Workflow
By Kelee Petzelt, Consultant 
By Brian Eidex, Senior Consultant
Quick Summary
- Healthcare stakeholders are increasingly recognizing the importance of PGx as it moves from a niche area to mainstream clinical and administrative workflows.
- Stakeholders, including providers, payers and pharmacists, should closely track the development of PGx in in preparation of its integration into routine patient care and business models.
- PGx testing helps personalize medication regimens based on genetic variants, making treatments safer, more effective and easier to follow.
- PGx has shown potential to minimize adverse reactions, speed up treatment decisions and enhance therapy efficacy, resulting in cost savings for patients, providers and payers.
- Standardization is crucial for the consistent integration of pharmacogenomic information into routine clinical workflows, and policy efforts like the "Right Drug Dose Now" Act highlight the importance of PGx in optimizing drug therapy.
- Challenges to broaden adoption include reimbursement and regulatory issues. Demonstrating the value of PGx testing to payers requires data on improved care outcomes and economic advantages.
- Pharmacists play a critical role in PGx implementation, from facilitating testing processes to guiding optimal drug selection and dosing. Interoperable pharmacy software systems are essential for seamless integration with other healthcare stakeholders. Engagement with organizations like the National Council for Prescription Drug Programs (NCPDP) is important for shaping standardized solutions and unlocking PGx's full potential in precision medicine.
Healthcare stakeholders are increasingly focused on pharmacogenomics (PGx). Once considered niche, PGx is now moving into mainstream clinical and administrative workflows.
Stakeholders, including providers, payers, and pharmacists, need to closely monitor the evolution of PGx to avoid being caught unprepared when it becomes a routine aspect of patient care and standard in business models. However, keeping up with the development of PGx is challenging due to various factors such as changing coverage models, evolving industry standards, interoperability concerns and input from trade associations.
In this article, we’ll consider the reception of PGx among providers, payers, and pharmacists, the potential clinical value, and the barriers to routine implementation of PGx.
PGx: A Brief History
PGx analyzes how genetic variants influence a person's response to medications, while genomics focuses on the structure and function of genomes. As part of precision medicine, PGx testing helps personalize medication regimens, making treatments safer, more effective, and easier to follow.
Two decades ago, experts envisioned the game-changing benefits of PGx. In his testimony to Congress in 2001, former National Institutes of Health (NIH) Director Francis Collins, MD, who also served as director of the Human Genome Project, could already envision testing “being used to tailor medicines to fit individual genetic profiles, since drugs that are effective in some people are less effective in others, and, in some, cause severe side effects.”
Today it can minimize or eliminate adverse reactions, speed up treatment decisions, and enhance therapy efficacy, leading to cost savings for patients, providers, and payers.
PGx: Policy
PGx is gaining recognition and acceptance in clinical practice and legislation, holding the potential to enhance patient care. The "Right Drug Dose Now" Act (H.R. 6875), introduced in the 117th Congress, emphasizes the significance of PGx in optimizing drug therapy. Standardization is crucial for the consistent and reliable integration of pharmacogenomic information into routine clinical workflows. As precision medicine and genomic technologies advance, stakeholders, including pharmacies, payers, PGx organizations, compendia and software vendors should actively participate in the precision medicine revolution.
PGx: Reimbursement & Value-Based Care
PGx has the potential to play a vital role in value-based care due to its clinical and cost-saving benefits. Adverse drug events result in numerous emergency room (ER) visits and hospitalizations, and PGx can help decrease such incidents. The Agency for Healthcare Research and Quality reports that adverse drug events annually account for nearly 700,000 visits to the ER and 100,000 hospitalizations.
Combined with the fact that a recent NIH study has shown nearly 100% of patients assessed via PGx have a genotype associated with a higher risk to at least one medication and that 66% of patients will be prescribed a PGx-actionable medication within five years, the business case for this type of still relatively novel therapeutic becomes even more rock solid. Add in the fact that a recent clinical trial found PGx testing helped reduce adverse events by 30%, and the impetus/conviction to incorporate PGx into patient care becomes undeniable.
It’s statistics like these that should pique the interest of healthcare stakeholders vested in expediting the shift from fee-for-service to value-based care. The extent to which PGx — particularly preemptive rather than reactive testing, which can guide future prescribing decisions — can help providers, pharmacists and payers personalize care plans to accommodate individual patients’ health risks should not be ignored.
By personalizing treatment plans through PGx testing, providers can improve patient outcomes and potentially save billions in healthcare spending. Several healthcare organizations have already integrated PGx testing into routine care, showing positive results in various medical fields. The key here, of course, is to help stakeholders move beyond statistics and whiteboard modeling to active implementation of value-based care business models that include PGx. Some healthcare organizations are already paving the way. For example:
- Jude’s Children’s Research Hospital has leveraged pre-emptive PGx testing as a part of routine clinical care for over a decade.
- The Mayo Clinic offers a similar service, even co-founding PGx solutions provider OneOme 10 years ago to bring PGx testing to a broader, global user base.
- Vanderbilt University Medical Center and University of Pittsburgh Medical Center (UPMC) have also invested in PGx programs. UPMC, in fact, has tested over 4,000 patients to improve outcomes and decrease costs.
- The Department of Veterans Affairs began offering PGx testing at select medical centers several years ago.
- The University of California, San Francisco health system began offering PGx testing in May, becoming the first health system in California to do so.
However, the broader adoption of PGx faces challenges related to reimbursement and regulation. Convincing payers of the value and return on investment of PGx testing requires more data on improved care outcomes and economic benefits. PGx testing, according to the American Society of Health-System Pharmacists and other organizations, has demonstrated contributions to improved outcomes in various fields, including behavioral health, cardiology, neurology, oncology and pain management, with the list continuously expanding. However, transitioning to value-based care, let alone integrating an emerging therapeutic like PGx, remains a complex endeavor.
PGx: Understanding and Overcoming Reimbursement and Regulatory Issues
Reimbursement for and accompanying regulatory issues around PGx testing have become major sticking points to broader adoption. A 2021 multisite study of 15 early PGx adopters found that most received little to no reimbursement for preemptive PGx testing from third-party payers. That study’s authors shared, anecdotally, that when reimbursement does occur, it typically doesn’t cover the entire cost of testing.
Gathering and sharing more data in the interest of demonstrating PGx return on investment to payers, providers and patients inevitably leads to several technology talking points. Dr. Philip Empey, who is director of the University of Pittsburgh-Thermo Fisher Scientific Pharmacogenomics Center of Excellence, stresses that, “Data must be available to use in standardized formats and 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 [EHR] or with decision support, integration and adoption will be slow going.”
Automated clinical decision support tools designed to alert providers to the availability of appropriate PGx tests within their electronic health records (her) workflows are certainly poised to help with PGx utilization. The successful implementation of PGx relies on standardized data formats, interoperability and seamless integration with EHRs to support clinical decision making. To move forward, stakeholders must work towards standardized testing and interpretation, ensuring PGx results are easily accessible and actionable across the healthcare system.
PGx: Role of Pharmacists, Value of Standardized Pharmacist-Led PGx Solution & The Role of NCPDP
As previously emphasized in a Point-of-Care Partners (POCP) editorial, pharmacists and the systems they utilize are increasingly becoming indispensable as part of the care team. Their importance in care coordination will continue to grow as patients, providers and payers embrace emerging therapeutics.
Pharmacists, whether working in health system or community pharmacy settings, possess a unique position to comprehend and communicate the benefits and challenges of emerging therapeutics to patients and other care team members. The American Society of Health-System Pharmacists recognizes the critical role of pharmacists in leading interprofessional efforts to facilitate pharmacogenomic testing processes, interpret results, guide optimal drug selection and dosing, and provide education to patients and providers based on these findings. Thus, pharmacists have a fundamental responsibility to ensure appropriate pharmacogenomic testing and utilization of its results to optimize medication therapy.
To enable pharmacists to advocate effectively for emerging therapeutics, their scopes of practice should incorporate these advancements and they should receive appropriate compensation at the state level. Regulatory agencies must equip pharmacists with the necessary tools to promote emerging therapeutics to patients who can benefit the most.
Interoperable pharmacy software systems play a crucial role in facilitating pharmacists’ involvement with emerging therapeutics. These systems should seamlessly interoperate with those of providers and payers, ensuring accessibility and sharing of interoperable data with all members of the care team. Encouragingly, federal efforts, such as Office of the National Coordinator’s Health Information Technology Advisory Committee on Pharmacy Interoperability and Emerging Therapeutics Task Force are already working toward making this a reality. This task force aims to identify recommendations for supporting interoperability across pharmacy stakeholders and the exchange of vital information for medication management, patient safety, and consumer engagement.
Pharmacists can be the driving force behind the success of emerging therapeutics in clinical care, given the necessary support from other providers, payers and regulatory agencies. With their boots-on-the-ground expertise, pharmacists can offer invaluable support to patients, making these cutting-edge therapies a true game changer in healthcare.
Standardized PGx practices establish consistency and evidence-based utilization of genetic information, driving improvements in precision medicine and optimizing medication therapy. Standardization ensures consistent interpretation of reporting, clinical guidelines, education, regulatory compliance, ethical considerations and research standards.
The standards development organization NCPDP plays a critical role in the standardization and integration of PGx information into pharmacy workflows. Pharmacy stakeholders, payers, and health information technology (health IT) vendors should actively monitor and engage with the standards work being done at NCPDP for the following reasons:
- NCPDP's PGx task group (WG10) is actively working to identify processes and standards to communicate PGx information within EHR/electronic medical record and pharmacy system workflows. This task group will also consider and make recommendations related to the need for education, patient selection criteria and testing, and criteria for intervention. Monitoring and engaging with NCPDP's standards work ensures alignment with industry best practices and facilitates the adoption of standardized solutions.
- Significant discussions took place at the NCPDP Stakeholder Action Group held in the spring. For more information, check out the blog we wrote to recap the event here.
- Involvement in NCPDP's precision medicine initiatives allows pharmacy, payers and health IT vendors to contribute their expertise and perspectives. By actively participating, stakeholders can shape the development of standards that meet their specific needs, ensuring the successful integration of PGx into their workflows.
Why Stakeholders Need to Pay Attention
The integration of pharmacogenomics into pharmacy workflows holds immense potential to advance precision medicine, improve patient outcomes, enhance medication safety and enable value-based care. Standardization plays a crucial role in unlocking the full power of PGx. Pharmacy stakeholders, payers and health IT vendors should actively monitor and engage with the standards work being done at NCPDP. By participating in NCPDP initiatives and attending the upcoming webinar, stakeholders can deepen their understanding of PGx standards and contribute to the realization of precision medicine's transformative potential.
Stakeholders looking to better understand PGx standards, related policies and how they may impact their business strategy should plan to attend the upcoming, August 17th NCPDP webinar that POCP's Kelee Petzelt will moderate. This webinar will provide an opportunity to gain insights from industry experts and engage in discussions about the integration of PGx into pharmacy workflows.
Stakeholders can also reach out to Kelee Petzelt (kelee.petzelt@pocp.com) and Brian Eidex (brian.eidex@pocp.com) to set up a time to chat and explore the potential strategic opportunities progress in PGx standards and inclusion in policy may hold for your particular organization. As always, POCP encourages active participation and staying informed. Stakeholders’ contributions to the advancement of precision medicine and optimized medication therapy may result in a competitive edge and improved patient outcomes.
