Have You Seen This?: Cost-Effectiveness of PGx Testing

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


Have You Seen This? 

Cost-Effectiveness of PGx Testing

DELRAY BEACH, FL  – Pharmacogenomics (PGx) is the study of how an individual’s genetic makeup influences their response to specific drugs. It has been applied across various therapeutic areas to evaluate and predict drug response based on genetic information. PGx-guided dosing and treatment can help normalize drug exposure, reduce side effects, and improve clinical response for drugs with established evidence. The US Food and Drug Administration (FDA) has identified over 400 biomarkers for approximately 300 medications mentioned in drug labeling. The FDA has published a table of pharmacogenetic associations that outlines drug-gene relationships supported by clinical research and trials. Pharmacogenomics has gained recognition and has been adopted in hospitals due to increased testing accessibility and expanding evidence base.

As a result of increasing data amount, the Clinical Pharmacogenetics Implementation Consortium (CPIC) functions as an international group that creates and curates freely available, evidence-based guidelines for translating PGx data into actionable prescribing decisions. These guidelines consider available evidence, the risk of adverse drug reactions, and the availability of tests for specific genes. However, they do not address the cost of testing or provide guidance on who should be tested. Despite cost being a major barrier, studies have shown that PGx testing is cost-effective or cost-saving for many drugs.

Cost-effectiveness of PGx testing is changing as testing platforms become more advanced and affordable. Summarized in a recent review, studies have indicated that PGx testing can be cost-effective or cost-saving, especially when considering multigene testing panels. Preemptive multigene testing, which provides information on multiple genes before drug initiation, has demonstrated significant cost savings.

Although many studies have evaluated the cost-effectiveness of PGx testing, there is limited representation for certain drug-gene pairs, and some drugs with CPIC guidelines lack cost evaluations. Furthermore, differences in methodology, population characteristics, and willingness-to-pay thresholds can impact cost outcomes. Despite these limitations, most studies conclude that PGx-guided treatment is cost-effective or cost-saving.

  1. Morris SA, Alsaidi AT, Verbyla A, et al. Cost Effectiveness of Pharmacogenetic Testing for Drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines: A Systematic Review. Clin Pharmacol Ther. 2022;112(6):1318-1328. doi:10.1002/cpt.2754
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