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September 23, 2025NEJM Evidence0 citations

Pharmacogenetic Testing — Evidence, Challenges, and Pathways to Adoption

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NRNihal El RoubyJJJulie A. Johnson

Key Points

  • Clinical pharmacogenetic testing optimizes pharmacotherapy selection to enhance patient outcomes.
  • Over the past decade, multiple pharmacogenetic associations relevant to cardiology and oncology have been identified.
  • Effective adoption faces challenges like limited reimbursement and clinician confidence in utilizing pharmacogenetic results.
  • Future prospects include broader multigene panel use and enhanced integration into electronic health records.

Abstract

Genetics plays an important role in the response to some drugs. Clinical pharmacogenetic testing can be used to guide pharmacotherapy selection or dosing to optimize outcomes. Growing evidence over the past decade has led to the identification of numerous pharmacogenetic associations, which have been integrated across multiple clinical areas, including cardiology, primary care, pain management, surgery, and oncology. Increased access to pharmacogenetic testing via national laboratories and pharmacogenetic testing companies has facilitated uptake and heightened public interest. While clinical adoption of pharmacogenetics has increased, challenges remain, including a lack of clinician confidence in navigating the logistics of testing and applying pharmacogenetics results in patient care; limited reimbursement for testing in some cases; the need for extensive outcomes and economic data; and limited inclusion of testing in clinical guidelines. Future opportunities include the broader use of multigene panels, enhanced clinician training, the integration of pharmacogenetic data within electronic health records, and increased documentation of outcomes data from real-world implementation to support insurance coverage.

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Cite This Study

Rouby et al. (2025) studied this question.

synapsesocial.com/papers/68d4759031b076d99fa6d7b9https://doi.org/10.1056/evidra2400343
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