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Updated: Sep 19, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients
Dana Bakheet1, Hana Al Alshaykh1, Ghadi Askar2
1King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Purpose:
Pharmacogenomic (PGx) testing has proven significant clinical utility in minimizing adverse drug reactions and maximizing therapeutic effects. This report is a proof of concept of the clinical implementation of PGx testing at a tertiary care hospital in Riyadh, Saudi Arabia.
Methods:
In collaboration with different departments, we implemented the PGx testing clinical service into our electronic health record cerner for heart and neurology centers patients. We used the PharmacoScan microarray-based test to perform genotyping.
Results:
To date, 512 patients have been tested. 97.5% of all patients have at least 1 gene with altered function. Among those patients, n = 402 (78.5%) had 3 or more genes with altered function (3 genes = 197, 38.5%, 4 genes = 134, 26.2%, 5 genes = 58, 11.3%, and 6 genes = 13, 2.5%).
Conclusion:
Our work describes the successful implementation of PGx testing in clinical practice and encourages further research on improving patient outcomes. Moreover, we describe the major challenges at each step of our approach, which provides our institute and others with lessons and insights on implementing PGx testing into clinical practice.

