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Pharmacogenomics (PGX) testing has already made a solid foothold in oncology care, helping doctors and pharmacists to determine which patients are most likely to respond to specific medications.
But despite its growing potential to inform prescribing across healthcare disciplines, PGX is not yet the standard of care. Bernard Esquivel, MD, PhD, MHA, the chief executive officer of GenXys Prescribing Systems, is working to change that.
Esquivel says that integrating PGX into routine medicine will take work from multiple directions, including standardizing testing and data, making PGX information easy for doctors to understand, and figuring out reimbursement. Messaging matters as well: As Esquivel stresses, PGX won’t magically make all prescribing dilemmas disappear; it can, however, give clinicians a clearer sense of the overall healthcare picture for each patient.
Several elements need to be covered. First, if we want healthcare practitioners to embrace PGX, we need to do a much better job of educating doctors, nurses, physician assistants, and others across the healthcare system about what it is and how it should be used. I wasn’t trained in PGX at all during my medical education. I really only learned about it after I earned my MD, worked in two specialties, and then got a PhD.
Secondly, we must understand the clinical implications of data from PGX tests. Focusing on PGX as this amazing, unique game-changer — which, don’t get me wrong, it is — can fall flat with clinicians. For them, it may be more effective to describe PGX as a helpful tool. Putting on my physician hat, if you help me to understand that PGX should be considered in the same way as kidney function, liver function, and comorbidities, I can begin to grasp its role in getting the right treatment to the right patient at the right time.
Another element is figuring out how to deliver the data to providers. If you’ve ever seen a PGX report, you know that it’s a 45-page PDF of what, for most people, looks like nonsense. How can physicians be expected to review a 45-page report, find and observe the right content, absorb the appropriate information, and then take clinical action based on it? It’s not realistic, and it’s not aligned with how we practice medicine.
Not only is interpreting PGX data critical, but so is finding ways to seamlessly integrate that information into physicians’ workloads — as opposed to making physicians jump into our workflow. Many healthcare systems have been working on doing this and finding success, including St. Jude’s and Vanderbilt.
The problem right now is that, in a lot of places, any data with “genetic” or “genomic” in its name lands in the genomic module within electronic health records. I’m a medical geneticist, but the vast number of people in medicine are not. That means they’re not going to go to the genetic modules.
Rather, since PGX information is directly related to prescribing, it needs to go into the prescribing module. A physician wants to know: Should I give my patient penicillin or not? It should be as simple as that.
A third issue is standardization. For glucose levels, you’re going to get the same number at any certified lab if you follow the same fasting regimen. For those kinds of well-established and routine tests, there’s standardization in how labs interpret a phenotype.
We don’t have that for PGX. Instead, the data you get from the lab provides information about an individual’s genotype or allele, which must then be translated into phenotype. To get the actual clinical implications from that information requires a high level of analysis and expertise. The Clinical Pharmacogenomics Implementation Consortium (CPIC) has been leading the standardization process, but there is more work to be done.
I’m going to highlight again that PGX is not a silver bullet. It should be considered as one piece of the puzzle when prescribing medication. That’s the key takeaway. The next most important concept is avoiding friction when delivering this information — and you do that by optimizing your messaging based on the recipient.
The third element is clearly understanding who’s going to pay for it. With PGX, we’re not yet there, as it’s still not part of the standard of care. Here, too, we need standardization. Some payers are asking for a six-gene panel; for others, it’s up to a 10-gene panel; and for still others, it’s a single-gene panel.
I see labs that don’t make it past their first two years because they can’t figure out who’s going to pay for their services. At the end of the day, PGX is not a realistic out-of-pocket service for most patients, given that the tests can cost $200, $300, and even $500. It’s not scalable at those price points.
But also, for clinical usage, for clinical implications, and for business growth, labs specifically need to figure out applications for PGX. With glucose, you order that test to be done every 90 days for patients with diabetes. PGX applies for life. Clinicians who start using it can figure out how to use PGX results more frequently for clinical scenarios; that’s how you grow your lab business, by finding better ways to deliver value.
It has a lot of potential across specialties. The low hanging fruit could be mental health, because there is enough information in well-regarded publications that addresses how PGX could be used in that area and the possible economic benefits. Beyond mental health, we’ve also seen clear pathways in cardiology and anesthesia. In oncology right now, PGX is a trending topic. Whatever works to bring attention to PGX is great.
But it still comes back to delivering the information in the right way. As a physician, I don’t need a 45-page report. Give me two minutes’ worth of information. Tell me what I need to do now. And then find better ways to embed PGX into the health continuum.
We also shouldn't be leaving it up to physicians and pharmacists to explain to patients how much PGX testing costs if it’s not covered by payers. It’s very unusual to expect physicians and pharmacists to become sales reps. There’s been some headwinds in terms of securing reimbursement for PGX with Medicare, which affects private payers, but we’re not there yet. We also typically only have access to PGX at big academic healthcare systems. But in reality, that’s not where most Americans go for healthcare. That’s another problem in the PGX space.
Hopefully we won’t be talking about it anymore because it will be part of the standard of care! How often have you heard recently about creatinine being used to adjust dosing? You don’t; it’s just the accepted norm. I hope the same will happen with PGX.
Jen A. Miller is a freelance journalist who lives in Audubon, New Jersey. +Bluesky: @byjenamiller.bsky.social