Current Genetic Medicine Reports

, Volume 6, Issue 2, pp 43–51 | Cite as

Patient Care Situations Benefiting from Pharmacogenomic Testing

  • Rachel A. MillsEmail author
  • Jennifer N. Eichmeyer
  • Leah M. Williams
  • Julie A. Muskett
  • Tara J. Schmidlen
  • Kristin A. Maloney
  • Amy A. Lemke
Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors)
Part of the following topical collections:
  1. Genetic Counseling and Clinical Testing


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.


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.


Pharmacogenomics Pharmacogenetics PGx Pharmacogenetic testing Patient care 



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.

Compliance with ethical standards

Conflict of interest

All authors declare that they have no conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Rachel A. Mills
    • 1
    Email author
  • Jennifer N. Eichmeyer
    • 2
  • Leah M. Williams
    • 3
  • Julie A. Muskett
    • 4
  • Tara J. Schmidlen
    • 5
  • Kristin A. Maloney
    • 6
  • Amy A. Lemke
    • 7
  1. 1.Department of Medicine, Center for Applied Genomics and Precision MedicineDuke UniversityDurhamUSA
  2. 2.College of Health SciencesBoise State UniversityBoiseUSA
  3. 3.GeneDxGaithersburgUSA
  4. 4.Inova Translational Medicine InstituteFalls ChurchUSA
  5. 5.Genomic Medicine InstituteGeisingerDanvilleUSA
  6. 6.Department of MedicineUniversity of Maryland School of MedicineBaltimoreUSA
  7. 7.Center for Personalized MedicineNorthShore University HealthSystemEvanstonUSA

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