Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Margot A. Cousin, Eric T. Matey, Patrick R. Blackburn, Nicole J. Boczek, Tammy M. McAllister, Teresa M. Kruisselbrink, Dusica Babovic-Vuksanovic, Konstantinos N. Lazaridis, Eric W. Klee

Research output: Contribution to journalArticle

5 Scopus citations


Background: We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort. Methods: WES results on 94 patients included a subset of PGx variants in CYP2C19, CYP2C9, and VKORC1 if identified in the patient. Demographic, phenotypic, and medication usage information was abstracted from patient medical data. A pharmacist interpreted the PGx results in the context of the patients’ current medication use and made therapeutic recommendations. Results: The majority was young with a median age of 10 years old, had neurological involvement in the disease presentation (71%), and was currently taking medications (90%). Of the 94 PGx-evaluated patients, 91% had at least one variant allele reported and 20% had potential immediate implications on current medication use. Conclusion: Due to the disease complexity and medication needs of diagnostic odyssey patients, there may be immediate benefit obtained from early life PGx testing for many and most will likely find benefit in the future. These results require conscientious interpretation and management to be actionable for all prescribing physicians throughout the lifetime of the patient.

Original languageEnglish (US)
Pages (from-to)269-279
Number of pages11
JournalMolecular Genetics and Genomic Medicine
Issue number3
StatePublished - 2017


  • Exome sequencing
  • pediatric
  • pharmacogenomics
  • precision medicine
  • secondary findings

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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