Open AccessPatient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care
Author(s) -
Hicks J. Kevin,
Shealy Amy,
Schreiber Allison,
Coleridge Marissa,
Noss Ryan,
Natowicz Marvin,
Moran Rocio,
Moss Timothy,
Erwin Angelika,
Eng Charis
Publication year - 2018
Publication title -
clinical and translational science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.303
H-Index - 44
eISSN - 1752-8062
pISSN - 1752-8054
DOI - 10.1111/cts.12493
Subject(s) - pharmacogenomics , medicine , multidisciplinary approach , dosing , pharmacogenetics , exome , medline , exome sequencing , bioinformatics , family medicine , phenotype , pharmacology , gene , genetics , biology , social science , biochemistry , sociology , genotype
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.