Precision Genomics: Achieving 100% AMP Tier 1 Target Coverage with Nanofluidic qPCR in Pharmacogenomics
Charles Park, Ph.D. Katherine Aitchison, Ph.D.
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Chapters
Introduction
Industry Education Session Presented by Standard BioTools
Presentation Overview
Solutions for critical biomarkers
Standard BioTools Proteomic & Multi-Omic Platforms
Genomics Solutions
Introduction
Pharmacogenomics: Simultaneous SNP, CNV, and Tandem Repeat Profiling
Comparison of traditional vs SBI PGx workflows
Combined PGx workflow enabled by microfluidics chip
Standard BioTools microfluidic chip
Combined PGx workflow enabled by Biomark X9
On-market PGx Assay
Assay content summary
Challenge of profiling UGT1A1 tandem repeats using standard qPCR
Results: UGT1A1 using our method
Assay Performance Summary
New Content
Recent DPYD guidelines
Assay content summary
Challenge of calling CYP2D6*29
Standard BioTools RS61736512 and RS1058164 assay results
Assay Performance Summary
Standard BioTools PGx capabilities
Testing a novel microfluidics genotyping approach for PGx
Land Acknowledgement
Disclosures
Outline
Precision Medicine
Pharmacogenomics
Adverse Drug Reactions (ADRs) - common and costly
Pharmacogenomics (PGx)
FDA drugs for neurology and psychiatry for which CYP2D6 is a biomarker
An antipsychotic example: CYP2D6 UMs and PMs are more likely to switch from risperidone
An anticonvulsant/mood stabilizer example
Validation of Single Nucleotide Variant Assays for Human Leukocyte Antigen Haplotypes
An analgesic example
CPIC
Current technological challenges
Testing and Customizing the Advanta PGx Assay
Methods
Coverage
Advanta PGx Assay
Data Analysis
Test Run A
CYP3A5*3 - example cluster plot
CYP2D6*2 (rs16947)
CYP2D6*2 (rs16947), XN phasing
Test Run B
Test Run B - example cluster plots
Hot off the press - Run C
Hot off the press - Run C: XN phasing
Hot off the press - Run C: hybrids
A novel CYP2D6 exon 9 conversion assay
Why the call of 1 for the CYP2D6*13+*2/*1?
Example of novel assay output
Summary
Strengths of this approach
Accurate detection of variants is essential
Acknowledgment
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