Implementing pharmacogenomics in a CLIA laboratory: Practical considerations and challenges

Pharmacogenomics (PGx) has been a game-changer in precision medicine and personalized therapeutics for the last 20 years, and its applications are only growing. According to the National Human Genome Research Institute, more than 98% of people have a genomic variant that could affect how they respond to commonly prescribed medicines. PGx can help clinicians target the right prescriptions to the right people for everything from pain management to cardiovascular disease to mental health.

While Europe has incorporated PGx into many clinical guidelines and practices, the U.S. has lagged. One common hurdle: Laboratory professionals and clinicians often lack familiarity with the benefits of PGx and the process involved in implementing it.

“This is a very interesting and evolving field,” said Guanmin Chen, PhD, clinical chemistry fellow at the University of Chicago. While many institutions are curious about PGx, they don’t know how to make such a program fit into their workflow and, overall, their healthcare system, she added.

In a roundtable discussion at ADLM 2025 (formerly the AACC Annual Scientific Meeting & Clinical Lab Expo), Chen will discuss the University of Chicago’s PGx translation program, which has been operating for 10 years. She hopes her perspective as a lab leader in a relatively mature U.S. program will make PGx seem less daunting for attendees.

“I want to use this opportunity to introduce other people to our program and how we run the tests,” she said. That includes the workflow, starting with getting a patient sample, genotyping them, analyzing results, and reporting the results in a way that clinicians can easily understand. The clinician part is key. If you can’t present a PGx recommendation in a straightforward way, clinicians won’t get on board, and the program will be for naught.

At the University of Chicago, they use a platform based on a nearly universal signaling system: the traffic light.

“If it’s red, you have to avoid this drug, and then green means the drug is safe,” she said. “Yellow is if this patient is associated with an increased risk” or would be an intermediate metabolizer of the drug. This information is available through a portal that can only be accessed by providers.

It’s a simple but incredibly effective solution. “One of the barriers to implementing PGx is that clinical providers don’t know how to interpret results and translate them from genotype to phenotype to clinical action,” she said.

While past roundtables have addressed the role of artificial intelligence in PGx, Chen wants to focus more on the practicalities of getting a program into place and enabling clinicians to use the results. As such, she will discuss these and other technologies, workflows, strategies for validation, and issues related to regulatory compliance.

She thinks the roundtable, which will include an open forum, would be of interest to anyone who wants to get a better understanding of PGx and learn from a program that made it work. She also hopes that anyone familiar with PGx will attend so that “everybody can share their experience and challenges and practices,” she said. 

Jen A. Miller is a freelance journalist who lives in Audubon, New Jersey. +Bluesky: @byjenamiller.bsky.social‬

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