Pharmacogenomics: Unlocking the Future of Medicine

Empowering your pharmacogenomics (PGx) journey with PGx solutions you can trust

What is pharmacogenomics (PGx)?

Pharmacogenomics, or PGx, is the study of how genes affect a person’s response to drugs. By understanding these genetic variations, researchers can uncover insights that may help prevent adverse drug reactions, improve treatment outcomes, and reduce healthcare costs.

 

Advancing PGx with proven experience

At Thermo Fisher Scientific, we share your mission to protect human health. Backed by more than two decades of PGx innovation, our comprehensive portfolio of reliable genotyping workflow solutions supports both translational and clinical research.


Technologies designed to fit your PGx workflow

Pharmacogenomics testing depends on precise, reliable technologies to detect genetic variations that influence drug response. Common approaches include real-time PCR (qPCR), microarraynext-generation sequencing (NGS), and digital PCR (dPCR). Together, these technologies form the foundation of scalable, accurate PGx testing workflows for translational and clinical research applications.

What factors are important for your PGx project?

Whether your priority is faster turnaround or broader gene coverage, our complementary portfolio of PGx solutions works together to support your research goals.

 


Fast time to results

Real-time PCR

TrueMark PGx SNP + CNV Real-Time PCR solution enables fast, reliable sample-to-diplotype results in approximately 8 hours.
 


Broad gene coverage

Microarray

Applied Biosystems Microarray Solutions facilitate broad genomic coverage and reliable data generation efficiently and cost-effectively.


Deep variant analysis

Targeted NGS

Ion Torrent NGS offers high-depth allele resolution and accurate detection of SNPs, CNVs, and indels under 50 bases.
 


High CNV precision

Digital PCR

Absolute Q digital PCR supports high copy number precision and absolute CYP2D6 CNV quantification in less than 1 day.
 

Whether you’re establishing, optimizing, or scaling PGx testing, our experienced team members partner with you to:

  • Identify the right workflow solutions for your goals
  • Offer guideline-aligned, relevant content
  • Enable both fixed-content and customizable panels
  • Provide responsive services and technical support

Together, we help you turn genomic data into meaningful discoveries towards advancing precision medicine and improving human health.


Which platform technologies should you choose for your PGx testing program?

Consider panel size: How many pharmacogenes are you planning to include in your assay or panel design?

Focused panels
(single gene testing and up to 10 genes)
Mid-sized panels
(between 10–100 genes)
Large panels
(Over 100 genes)
 

 

Consider targeted PGx or comprehensive PGx approaches: Compare our PGx platform technologies

Explore our comprehensive portfolio of pharmacogenomics (PGx) solutions, arranged from targeted PGx approaches on the left to comprehensive PGx options on the right:

 

Technology/platform Digital PCR Real-Time PCR Targeted NGS Microarray
Products QuantStudio Absolute Q Digital PCR System TrueMark PGx SNP + CNV Solution on QuantStudio 5, 7, and 12K Flex real-time PCR systems Ion AmpliSeq PGx custom panels on Ion GeneStudio S5 systems and the Ion Torrent Genexus Integrated Sequencer

Custom designs and PharmacoPRO / PangenomePRO Plus array plates on SwiftArrayStudio microarray ​

Applications Multiplexed CNV analysis SNP and CNV genotyping SNP and CNV genotyping SNP and CNV genotyping, HLA and Whole Genome Coverage
Highlights
  • High CNV detection
  • Absolute CNV quantification
  • Simple workflow
  • Fast time to results
  • Fast sample-to-diplotype results workflow
  • Relevant, guideline-driven content
  • Low cost per sample
  • Scalable throughput
  • Customizable coverage of SNPs across multiple gene​s
  • Flexibility in gene coverage from single to many genes​
  • Automated from sample to result using the Ion Torrent Genexus System
  • Cost-effective for comprehensive data​
  • Reproducible—direct genotypes of relevant markers 
  • Star allele and metabolizer status reports​
  • Results in 30 hours using the SwiftArrayStudio microarray
No. of PGx markers Up to 4 markers Up to 240 markers 12–5,000 amplicons (an amplicon can potentially have multiple markers) 2,000–15,000 or more markers, depending on the array
No. of genes Single gene testing and up to 4 targets multiplexed per assay Single gene testing and many genes Customizable (tens to hundreds of genes targeted per panel) Many genes; coverage is array-dependent
Sample volume / throughput per run 4–16 samples per run Up to 144 samples per run Up to 48 samples per run automated on the Genexus System and up to 384 samples per run on the GeneStudio S5 system (manual library prep) 24 or 96 samples/run
Formats 16 well plate
  • OpenArray plate
  • 384-well plate
  • Single tubes

Single tube with multiplexed assays

24- or 96-well format SBS/ANSI plates
Time to results 90 minutes <1 day for diplotype results (approx. 8 hours) 16 hours to 2 days

30 hours on the SwiftArrayStudio microarray

5 days on the GeneTitan instrument

Cost per sample $$ $ $$$ $$
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For Research Use Only. Not for use in diagnostic procedures.

Dosing, timing and genetics matter

It’s time to integrate PGx into the standard of care. Join the PGx revolution.