Exploring the Knowledge and Perspectives of US Payers on Preemptive Pharmacogenetic Testing


pgx pharmacogenetic testing

When it comes to wide-scale adoption of pharmacogenomics (PGx) testing, reimbursement has been one of the industry’s biggest roadblocks. This is especially true when it comes to the preemptive testing model. While preemptive testing could significantly optimize medication use, payers are still hesitant to take on the upfront costs.

Nick Keeling’s research offers an in-depth, qualitative analysis of the payer’s perspective on the issue—their understanding of the field and the economic constraints they face when making payment decisions. Here’s what Keeling found.

Preemptive Model for PGx Testing

PGx testing represents a key component of precision health care. But there’s more than one way to implement PGx testing.

Currently, most PGx testing is reactive. Health-care providers won’t order a genetic test until a patient is taking high-risk medication or has a bad reaction.

However, a preemptive PGx testing model screens patients up front for multiple genetic variants.


There are clear advantages to the preemptive testing model.

First, it provided test results as actionable information stored in the patient’s electronic health record (EHR). This data is available to physicians at the point of prescription.

Second, the results can be used more than once. This represents a lower cost when compared to running multiple single-gene tests.


The biggest disadvantage is the upfront cost. Although prices continue to fall, the significant one-time cost of preemptive testing can be a hard pill to swallow.

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Mounting Evidence

But as new evidence continues to emerge, it’s becoming clear that PGx testing is a broadly applicable and often cost-saving approach.

One study showed that 93 percent of patients diagnosed with one of the top 21 diseases were being treated with one or more PGx implicated medication.

Another looked at 44 economic evaluations of PGx programs and found that more than half reflected an economic benefit.

And nearly 25 percent of the nearly 23,000 tests examined by the Translational Pharmacogenomics Program were classified as potentially actionable according to CPIC guidelines.

The evidence is clear. And as a result, preemptive testing may be on track to become a best practice.

From the Payer’s Perspective

But how do payers view preemptive PGx testing?

Nick Keeling and his colleagues had access to a large payer pool of 14 pharmacy and medical directories consisting of 122 million patients. They used qualitative methods to capture the preferences and decision-making behaviors of the payers.

When it comes to covering and reimbursing preemptive PGx testing, here’s what concerns payers the most.

Clinical Applicability

While payers believe PGx testing has potential value, they remain skeptical that it will improve patient outcomes.

Although evidence is mounting in favor of PGx testing, payers still see the randomized controlled trial as the gold standard for clinical evidence. But some payers expressed flexibility and even suggested alternative types of study designs that could be useful.

Surprisingly, many payers were either not well-informed or completely unaware of the CPIC. Even though payers found CPIC guidelines useful, they wished that the recommendations went further. CPIC’s current guidelines do not include when or whom to test.

Economic Considerations

A universal complaint from payers was the large upfront cost for preemptive testing. This was compounded by the uncertainty of its long-term benefits. But some felt stratifying patients based on potential actionability could help solve both of these issues.

Additionally, many payers requested a number needed-to-test (NNT) calculation to justify reimbursment. In other words, how many tests would they need to run to prevent a single adverse event? This would help convey the economic utility of PGx testing.


Payers viewed the Centers for Medicare & Medicaid Services (CMS) as the primary leader for the wider adoption of PGx testing. If CMS took the lead, implemented a broad PGx program, and published the results, other payers would follow suit.

Lastly, payers were keeping an eye on academic organizations in the process of implementing preemptive PGx testing. Such programs could provide a valuable framework, especially for smaller or integrated payer networks.

Implementation Solutions from Translational Software

For successful PGx implementation, the right technology is critical. Translational Software offers solutions that help testing programs achieve clinical applicability and economic viability.

Looking to lower your PGx program’s NNT? Our solutions can help you track the number of actionable issues found in your tested population. We can also help stratify patient populations and identify those that will benefit the most from testing.

If you’re interested in learning more, check out Nick Keeling’s webinar on the topic.


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