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Clin Pharmacol Ther. 2016 Aug;100(2):160-9. doi: 10.1002/cpt.350. Epub 2016 Jun 1.

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network.

Author information

1
Case Western Reserve University, Cleveland, Ohio, USA.
2
University of Washington, Seattle, Washington, USA.
3
Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
4
Pennsylvania State University, University Park, Pennsylvania, USA.
5
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
6
Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
7
Mayo Clinic, Rochester, Minnesota, USA.
8
Group Health Research Institute, Seattle, Washington, USA.
9
Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
10
Marshfield Clinic, Marshfield, Wisconsin, USA.
11
Boston Children's Hospital, Boston, Massachusetts, USA.
12
Northwestern University Feinberg School of Medicine, Evanston, Illinois, USA.
13
Children's Hospital Medical Center, Cincinnati, Ohio, USA.
14
National Human Genome Research Institute, Bethesda, Maryland, USA.
15
Geisinger Health System, Danville, Pennsylvania, USA.
16
University of Cincinnati, US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
17
Department of Pediatrics, Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston, Massachusetts, USA.

Abstract

Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants affect drug response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research Network, began eMERGE-PGx, a targeted sequencing study to assess genetic variation in 82 pharmacogenes critical for implementation of "precision medicine." The February 2015 eMERGE-PGx data release includes sequence-derived data from ∼5,000 clinical subjects. We present the variant frequency spectrum categorized by variant type, ancestry, and predicted function. We found 95.12% of genes have variants with a scaled Combined Annotation-Dependent Depletion score above 20, and 96.19% of all samples had one or more Clinical Pharmacogenetics Implementation Consortium Level A actionable variants. These data highlight the distribution and scope of genetic variation in relevant pharmacogenes, identifying challenges associated with implementing clinical sequencing for drug treatment at a broader level, underscoring the importance for multifaceted research in the execution of precision medicine.

PMID:
26857349
PMCID:
PMC5010878
DOI:
10.1002/cpt.350
[Indexed for MEDLINE]
Free PMC Article

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