Pharmacogenetic (PGx) testing laboratories are tasked with quickly analyzing samples and reporting results. It can be a challenge to accurately characterize samples or even to generate results. Labs are often required to analyze challenging samples with low-quality DNA. Increased prevalence of self-collection exacerbates the issue as samples are collected at home or in an off-site location and mailed to the laboratory.
Additionally, it is estimated that up to 13% of the general population possesses a CYP2D6 hybrid allele. These unique rearrangements often go undetected when samples are characterized using common PGx testing methods. Hybrid alleles render the CYP2D6 gene non-functional. Not detecting them can lead to mischaracterization of drug metabolism status.
This session will focus on how PGx testing labs can respond to these common challenges and accurately characterize samples.
- Common PGx testing challenges including low-quality DNA and CYP2D6 hybrid alleles.
- How common challenges lead to sample mischaracterization.
- Testing methods to respond to these challenges and deliver accurate results.
Robin Everts, PhD
Staff Scientist, Scientific Affairs
Dr. Robin Everts has developed genotyping, somatic mutation analysis and DNA methylation assays for over 100 applications including pharmacogenetics, clinical genetics and somatic mutation profiling. Dr. Everts is also a contributor to the CDC’s Genetic Testing Reference Materials Coordination Program (GeT-RM, Pharmacogenomics workgroup) for which he created and tested the ADME PGx Pro Panel as well as several CYP450 single gene panels (CYP2C9, CYP2C19, CYP2D6). Dr. Everts was trained as a molecular geneticist and he has published over 45 peer-reviewed articles in different fields including gene expression in immunology, developmental biology, pharmacogenetics, as well as gene mapping. Over the last ten years Dr. Everts has focused primarily on improving and expanding the pharmacogenetics and clinical genetics capabilities of the MassARRAY Analyzer platform. Dr. Everts earned a BSc and MSc in Animal Sciences from Wageningen Agricultural University, The Netherlands and a PhD in Molecular Genetics from Utrecht University, The Netherlands.