Open AccessPharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients
Author(s) -
Cousin Margot A.,
Matey Eric T.,
Blackburn Patrick R.,
Boczek Nicole J.,
McAllister Tammy M.,
Kruisselbrink Teresa M.,
BabovicVuksanovic Dusica,
Lazaridis Konstantinos N.,
Klee Eric W.
Publication year - 2017
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.283
Subject(s) - medicine , pharmacogenomics , exome sequencing , context (archaeology) , precision medicine , disease , cohort , pediatrics , pharmacist , genetic testing , personalized medicine , exome , family medicine , intensive care medicine , pharmacy , bioinformatics , pathology , pharmacology , genetics , phenotype , paleontology , biology , gene
Background We characterized the pharmacogenomics ( PG x) 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 PG x variants in CYP 2C19 , CYP 2C9 , and VKORC 1 if identified in the patient. Demographic, phenotypic, and medication usage information was abstracted from patient medical data. A pharmacist interpreted the PG x 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 PG x‐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 PG x 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.