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Updated: May 14, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes
John Henry McDermott1,2, Videha Sharma3, Jessica Keen2
1Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.
Abstract:
Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic testing confined to a few single drug-gene associations. Here, we describe the current reactive model of single gene testing and the potential for this to change to a pre-emptive panel or genome-based approach. For this change to occur, three major challenges need to be addressed-the pharmacogenomic testing approach, the digital and data integration, and service delivery models. We explore some of the potential solutions and how pharmacogenomics can be integrated into routine care at scale for patient benefit.
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