Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.

ABSTRACT:

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 neurol

SUBMITTER: Cousin MA 

PROVIDER: S-EPMC5441410 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature