Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

Clin Transl Sci. 2018 Jan;11(1):71-76. doi: 10.1111/cts.12493. Epub 2017 Jul 27.


Whole exome sequencing (WES) has the potential of identifying secondary findings that are predictive of poor pharmacotherapy outcomes. The purpose of this study was to investigate patients' wishes regarding the reporting of secondary pharmacogenomic findings. WES results (n = 106 patients) were retrospectively reviewed to determine the number of patients electing to receive secondary pharmacogenomic results. Phenotypes were assigned based on Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. The percent of patients with a predicted phenotype associated with a gene-based CPIC dosing recommendation was determined. Ninety-nine patients (93.4%) elected to receive secondary pharmacogenomic findings. For each gene-drug pair analyzed, the number of patients with an actionable phenotype ranged from two (2%) to 43 patients (43.4%). Combining all gene-drug pairs, 84 unique patients (84.8%) had an actionable phenotype. A prospective multidisciplinary practice model was developed for integrating secondary pharmacogenomic findings into clinical practice. Our model highlights a unique collaboration between physician-geneticists, pharmacists, and genetic counselors.

MeSH terms

  • Adult
  • Decision Making
  • Delivery of Health Care, Integrated / methods*
  • Delivery of Health Care, Integrated / organization & administration
  • Exome Sequencing
  • Female
  • Genetic Counseling / methods
  • Genetic Counseling / organization & administration
  • Genetic Counseling / statistics & numerical data
  • Humans
  • Interdisciplinary Communication
  • Male
  • Models, Organizational*
  • Patient Care / methods
  • Patient Care Team / organization & administration*
  • Patient Preference / statistics & numerical data*
  • Pharmacists / organization & administration
  • Pharmacogenomic Testing / statistics & numerical data*
  • Pharmacogenomic Variants / genetics
  • Phenotype
  • Physicians / organization & administration
  • Prospective Studies
  • Retrospective Studies
  • Young Adult