Pharmacogenetic Testing — Evidence, Challenges, and Pathways to Adoption

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.