MSACL 2018 US Abstract

Topic: Practical Training

Getting Started with Pharmacogenetics Testing and Mass Spectrometry - I

Fang Wu (Presenter)
St. Paul

Bio: Fang Wu, PhD,is a Clinical Biochemist at the Saskatoon Health Region and an Assistant Professor at the University Of Saskatchewan College Of Medicine (Canada). She received her PhD degree from the University of Alberta (Canada), and completed her clinical chemistry training at the University of Utah and ARUP laboratories. Her research interests include development and application of mass spectrometry methods for clinical laboratories, clinical laboratory process improvement, toxicology and pharmacogenetics.

Authorship: Fang Wu (1), Roberta Melis (2), Gwendolyn A. McMillin (2,3)
(1) Department of Laboratory Medicine and Pathology, Saskatoon Health Region, Saskatoon, SK, Canada, S7W 0S1;(2) ARUP Laboratories, Salt Lake City, UT, USA, 84108; (3) Department of Pathology, University of Utah, Salt Lake City, UT,USA, 84132,

Short Abstract

This session will discuss current strategies and applications for pharmacogenetics (PGx) testing using matrix assisted-laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF/MS) with the focus on single nucleotide variant (SNV) and copy number variant (CNV) analysis. MALDI-TOF/MS basics and the workflow for SNV and CNV analysis will be explained. Guidance/recommendations on method validation will be discussed. The challenges of implementing MALDI-TOF/MS PGx in clinical laboratories will be presented from several key points, e.g. turnaround time, cost, personnel and technical issues.

Long Abstract


Pharmacogenetics has become an important element of precision and personalized medicine. A widely targeted area of pharmacogenetics is intended to predict or explain drug metabolism. Several commercial assays are used to identify cytochrome P450 (CYP450) genotype and copy number in clinical laboratories, including Roche AmpliChip CYP450 test, Luminex xTAG, AutoGenomics Infiniti assay, ThermoFisher OpenArray and Illumina VeraCode ADME Core Panel. However, many disadvantages have been reported with these assays, including unfavorable costs and genotype inaccuracies. MALDI-TOF/MS offers a possibility for genotyping, and this technology has been applied to analyze single nucleotide variants (SNVs) and copy number variants (CNVs) of various genes including CYP3A4, 3A5, 2C9, 2C19 and 2D6. The session will be divided into 3 20-minute segments

Segment I covers two aspects listed below:

1) MADLI-TOF/MS basics

a. Ionization mechanism

b. Sample preparation and the roles of matrices

c. Summarize the key features of MALDI-TOF/MS

2) Workflow for PGx testing by MALDI-TOF/MS

a. Genomic DNA amplification

b. Neutralization of unincorporated dNTP and single nucleotide


c. Sample cleanup

d. MS analysis





Conclusions & Discussion

After this segment, participants will be able to explain the workflow process for MALDI-TOF/MS PGx testing.

References & Acknowledgements:


Financial Disclosure

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IP Royalty: no

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