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Updated: Jun 7, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A Comparison of Molecular Techniques for Improving the Methodology in the Laboratory of Pharmacogenetics
María Celsa Peña-Martín1,2,3, Elena Marcos-Vadillo1,3, Belén García-Berrocal1,3
1Department of Clinical Biochemistry, University Hospital of Salamanca, 37007 Salamanca, Spain.
Abstract:
One of the most critical goals in healthcare is safe and effective drug therapy, which is directly related to an individual's response to treatment. Precision medicine can improve drug safety in many scenarios, including polypharmacy, and it requires the development of new genetic characterization methods. In this report, we use real-time PCR, microarray techniques, and mass spectrometry (MALDI-TOF), which allows us to compare them and identify the potential benefits of technological improvements, leading to better quality medical care. These comparative studies, as part of our pharmacogenetic Five-Step Precision Medicine (5SPM) approach, reveal the superiority of mass spectrometry over the other methods analyzed and highlight the importance of updating the laboratory's pharmacogenetic methodology to identify new variants with clinical impact.

