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Patient Care Situations Benefiting from Pharmacogenomic Testing

  • Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors)
  • Published:
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Abstract

Purpose of Review

Pharmacogenomics is an evolving area in precision medicine that aims to identify patients who have variable drug response, detect those at risk for developing adverse events, and guide drug dosing. Guidelines for optimization of PGx testing are available for a number of drug-gene pairs, and evidence supporting the clinical utility of this service is growing in specific patient contexts. This report reviews a variety of patient care situations in which evidence is emerging to show patient benefit from pharmacogenomic (PGx) testing.

Recent Findings

Preemptive PGx testing minimizes delays in treatment, reducing costs and time to therapeutic effect; however, preemptive testing is currently not feasible in all healthcare settings. Therefore, specific patient care situations that could benefit from PGx testing to be prioritized include medications requiring PGx testing, adverse drug reactions, therapeutic failures, polypharmacy, special populations, and specialty care settings such as cardiology, oncology, and psychiatry.

Summary

Although preemptive PGx testing is likely the best option for patient care, implementation challenges are impeding its uptake. PGx testing is beneficial and more feasible in certain patient situations and may be a starting point for implementation of PGx testing in a care setting. Continued efforts to evaluate patient and provider use and outcomes of PGx testing services will be helpful in informing the current evidence base and standard of care.

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Acknowledgements

The authors would like to thank members of the National Society of Genetic Counselors Precision Medicine SIG Pharmacogenetics Working Group as well as Dr. Deepak Voora and Dr. Susanne Haga for their thoughtful comments on manuscript drafts.

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Authors and Affiliations

  1. Department of Medicine, Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC, USA

    Rachel A. Mills

  2. College of Health Sciences, Boise State University, Boise, ID, USA

    Jennifer N. Eichmeyer

  3. GeneDx, Gaithersburg, MD, USA

    Leah M. Williams

  4. Inova Translational Medicine Institute, Falls Church, VA, USA

    Julie A. Muskett

  5. Genomic Medicine Institute, Geisinger, Danville, PA, USA

    Tara J. Schmidlen

  6. Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA

    Kristin A. Maloney

  7. Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, IL, USA

    Amy A. Lemke

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Mills, R.A., Eichmeyer, J.N., Williams, L.M. et al. Patient Care Situations Benefiting from Pharmacogenomic Testing. Curr Genet Med Rep 6, 43–51 (2018). https://doi.org/10.1007/s40142-018-0136-y

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