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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Genome Sequencing Approach to Pharmacogenomic Pr ...
A Genome Sequencing Approach to Pharmacogenomic Profiling Across Diverse Population in a Large Health System
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Pdf Summary
This study aimed to evaluate the use of genome sequencing for pharmacogenomic (PGx) profiling in a large health system. The researchers selected seven gene-drug pairs based on prescription data and guidelines and used genome sequencing for PGx testing. The validation process showed 100% correlation with reference data for four genes. The study found that genome sequencing allowed for the detection of more variants in an ethnically diverse population and that PGx testing could optimize therapy even after drugs have been prescribed. High-touch clinical outreach and targeted gene-drug selection helped engage providers and patients in PGx utilization, but integration of a clinical decision support tool is needed for scalability. The majority of therapy adjustments were made for proton pump inhibitors and selective serotonin reuptake inhibitors, with 82% of providers accepting the recommendations and 76% of individuals experiencing successful outcomes after adjustment. The study also identified four structural PGx variants that would have been missed with traditional testing. Approximately 14% of enrolled individuals had a positive PGx result, and pharmacist consultation resulted in therapy interventions for 17% of those cases. The researchers concluded that genome sequencing is a valuable tool for PGx profiling in diverse populations, and PGx testing can have a significant impact on therapy optimization. However, the implementation of PGx testing on a larger scale will require the integration of a clinical decision support tool.
Asset Subtitle
Presenting Author - Li Chi Yuan, PharmD; Co-Author - Isabelle Lucas Beckett, PhD; Submitter Only - Katlyn R. Emery, MS; Submitter Only - Josiah T. Wagner, PhD; Submitter Only - Benjamin A. Cosgrove, MS; Submitter Only - Kathleen Jade, ND; Submitter Only - Eric M. Shull, MS; Submitter Only - Andrew Magis, PhD; Submitter Only - Brian D. Piening, PhD; Submitter Only - Carlo Bifulco, MD; Submitter Only - Ora K. Gordon; Submitter Only - Mary Campbell, BS; Submitter Only - John Welle, BS; Submitter Only - Nick Wagner, MS; Submitter Only - Jon Clemens, BS;
Meta Tag
Genome sequencing
Pharmacogenomics
Public Patient and Professional Education
Co-Author
Isabelle Lucas Beckett, PhD
Presenting Author
Li Chi Yuan, PharmD
Submitter Only
Katlyn R. Emery, MS
Submitter Only
Josiah T. Wagner, PhD
Submitter Only
Benjamin A. Cosgrove, MS
Submitter Only
Kathleen Jade, ND
Submitter Only
Eric M. Shull, MS
Submitter Only
Andrew Magis, PhD
Submitter Only
Brian D. Piening, PhD
Submitter Only
Carlo Bifulco, MD
Submitter Only
Ora K. Gordon
Submitter Only
Mary Campbell, BS
Submitter Only
John Welle, BS
Submitter Only
Nick Wagner, MS
Submitter Only
Jon Clemens, BS
Keywords
genome sequencing
pharmacogenomic profiling
PGx testing
therapy optimization
clinical decision support tool
diverse populations
proton pump inhibitors
selective serotonin reuptake inhibitors
structural PGx variants
pharmacist consultation
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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