#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions

Aug 15, 2025

Kathleen O’Brien, a board-certified genetic counselor specializing in pharmacogenomics and hereditary oncology, and Kristy Bouvier, a product manager overseeing PGx offerings at Quest Diagnostics, explain how DNA shapes drug response. They walk through PGx test types and reports. They discuss real-world gene–drug examples, clinical adoption challenges, keeping tests current, and access and insurance issues.

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ADVICE

Verify Panel Content Before Ordering

Check which genes and alleles a PGx panel includes before ordering because content varies widely.
Kristy Bouvier notes Quest's polypharmacy panel includes 17 genes and 4 HLA alleles with high-evidence associations.

INSIGHT

PGx Cuts Adverse Reactions

PGx-guided prescribing reduces adverse drug reactions and can alter dosing or choice of medication.
Kathleen O’Brien cites the PREPARE study showing about a 30% reduction in adverse drug reactions.

INSIGHT

Genetics Predicts Severe Drug Toxicity

Specific gene variants (e.g., DPYD, HLA alleles) can predict severe toxicity to chemotherapy or immune-mediated reactions.
Kathleen O’Brien explains how knowing variants lets clinicians change dose, choose alternatives, or monitor more closely.

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Why do some medications work perfectly for one person but cause side effects—or fail completely—for another? The answer often lies in our genes. Pharmacogenomic (PGx) testing analyzes how our DNA affects our response to medications, helping doctors personalize treatment, reduce adverse reactions, and improve outcomes.

Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics, both of whom have decades of experience in the field. Kristy, a product manager, brings deep expertise in pharmaceuticals, while Kathleen, a board-certified genetic counselor, specializes in pharmacogenomics and hereditary oncology.

In this episode, we’ll explore:

✅ How pharmacogenomics (PGx) works and what results the test provides
✅ How PGx testing prevents adverse drug reactions and improves treatment
✅ Real-world examples of PGx in action
✅ Challenges and future trends in integrating pharmacogenomics into healthcare
✅ What patients should know before getting tested

The Panel:

Kristy Bouvier started her career with Quest Diagnostics in 2014 as a Neurology Account Executive for the Boston North territory. In this role she has over 8 years of experience in laboratory sales specializing in neurology and genetics. Currently Kristy serves as a product manager for U.S. Specialty genetics where she is responsible for the Quest genetics portfolio in rare diseases. She currently manages the biochemical genetics, cytogenetics, pharmacogenomics, and whole exome product lines.

Kathleen O’Brien, MS, DABMG, CGC is a board-certified genetic counselor who has been with Quest Diagnostics since 2005. She previously worked in clinical genetic counseling at Stony Brook University Hospital, Winthrop University Hospital (now NYU), and the NYS Institute for Basic Research. She earned her Master of Science in Genetic Counseling from the University of Colorado Health Sciences Center and has a special interest in hereditary oncology and pharmacogenomics, actively contributing to CPIC, NSGC, and the NSGC pharmacogenetics working group.

Resources:

Quest’s New Pharmacogenomics Panel

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

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