The Quality of Pharmacogenomics Research: A Growing Field with Strong Foundations

Earlier this month I covered the “what” behind pharmacogenomics. (TLDR - it's a genetic test that predicts how an individual will respond to medications, using a cheek swab done at home, and in the case of Inagene, mailed to and analyzed at our Toronto-based lab). 

As research advances and our understanding deepens, we’ll continue to see more personalized and effective treatment options for patients. However, with growth comes the need for rigorous evaluation to ensure that we’re not just expanding our knowledge base but are doing so with quality evidence that truly benefits patient care. 

Significant growth, sound science   

The past 15+ years have been busy in the pharmacogenetics space. In the late 2000s, we saw the formation of the Clinical Pharmacogenetics Implementation Consortium (CPIC) and PharmGKB.  

• These organizations have been pivotal in gathering, reviewing, rating and sharing research on gene-drug interactions, and converting an enormous volume of research into digestible guidance for clinicians and other stakeholders. 

Since the 2010s, the number of identified gene-drug pairs has skyrocketed. Our researchers at Inagene developed this graph so you can see the growth in guidelines published by CPIC each year. 

Variability in Research Across Countries 

Another source of PGx recommendations is through product labels or monographs – the publications that are associated with any drug when it is released. Over the past 10 years, 63% of new drugs approved through the FDA have included a reference to genetic associations, and expedited approvals are 2X more likely to be supported by genetic evidence. 

Source: https://www.researchgate.net/figure/Pharmacogenetic-biomarkers-in-FDA-drug-labels-over-the-last-decade_fig1_360645797 

By comparison, Health Canada has some catching up to do: when our team compared the number of useable recommendations for drugs approved by FDA vs. Health Canada, Health Canada had roughly half that of the FDA. This variability underscores the need for more comprehensive data collection and research efforts worldwide to ensure the broad applicability of PGx findings. 

Not All Recommendations Are Created Equal   

While the number of PGx findings has increased, not all recommendations are created equal. For example, if you dig into CPIC’s recommendations, you will see that they’re divided into levels: 

• Levels A & B: There is strong research and/or actionable insights; PGx recommendations should be used 

• Levels C & D: There are less published studies at varying levels of evidence; PGx prescribing actions are not recommended 

This makes a complex situation even trickier: as a customer, you want to find a product that covers as many medications as possible. BUT a product that is too comprehensive is likely including medications in the lower levels (or what is called “Preliminary Recommendations”), which don’t have enough research or impact to support the recommendations. 

• Why is this an issue? Using weaker data to draw conclusions and create recommendations can be harmful: it can expose people to unnecessary side effects or other complications from selected medications, convince individuals to avoid treatments that may in fact be beneficial, and/or incur unnecessary costs for selected treatments. 

So, what should you do with this information?  

• First, if you’re considering buying a PGx test, review the list of medications covered. This will help you know how well the test will help you today and in the future. 

• Next, look for information from the provider about what levels of recommendations they include. (If this isn’t noted on their website, you can reach out to the provider to get those details). You could, in theory, go directly to CPIC, FDA or PGKB websites and type in a medication to see its rating. But this isn't always straightforward, and not every website covers every drug.

• Finally, look at accreditation information for the lab running the genetic tests. CLIA, COLA, and CAP are well-established accreditation programs for laboratories. This is critical as it provides assurances that your results are accurate and that your personal information is safe 

This article hits on some of the most important, and difficult-to-understand, attributes of Inagene: 

1. We only include recommendations in the upper levels of evidence from reputable organizations. (This means we may not include medications that other companies do, in situations where experts believe the research isn’t strong enough). 

1. We’re continually updating our recommendations, drug list, and gene panel as the research evolves. (Based on the graphs above, this is important!). 

1. We use our own Toronto-based lab, which is CLIA and COLA certified, and subscribes to a CAP proficiency program. (This ensures that the genetic information underlying your recommendations is accurate). 

Ultimately, this approach means that customers and their healthcare providers get the highest quality recommendations possible to guide decisions about medications. But it's not always easy to make that clear to customers.

Are these articles useful? I'd love to hear any comments! And feel free to include topics that you’d like me to dive into in the comments. Inagene is working toward some exciting announcements as the fall months approach, so there’s lots more to come.