Pharmacogenomics (PGx) | Benefits, research solutions, & technologies

Pharmacogenomics (PGx) is the study of how variations in the human genome dictate a person’s response to medications. In one study, more than 99% of people assessed had a genotype associated with a higher risk to at least one medication.¹ Findings from pharmacogenomics research can lead to better future outcomes for both individuals and healthcare providers through improved medication safety and efficacy and lowered medical costs.

Leveraging pharmacogenomics technologies will ultimately enable healthcare providers to:

Maximize the intended use of a medication or treatment
Reduce adverse drug reactions
Speed time to achieving the therapeutic benefit of a drug
Decrease the chance of side effects or dependency

Decrease the cost of healthcare expenditures by:

Using genomics to identify the most appropriate and affordable drug the first time
Reducing adverse drug reactions early in treatment, thus
- Reducing hospital length of stays
- Reducing hospital readmissions
- Reducing ER visits

Patient Story: Mehri’s Journey to Wellbeing Through Pharmacogenomic Testing

In this story, Mehri Coulter, mental health advocate, describes her struggles with bipolar disorder and how she was ultimately able to achieve stability and happiness through pharmacogenomic testing.

Importance of PGx

Personalized medicine experts and thought leaders share their perspectives on PGx and its current state in their respective countries.

Technology Comparison

Advantages and Disadvantages of Common PGx Technologies²

Technology	Advantages	Disadvantages
Sanger Sequencing	Gold standard for confirming genetic variants	Time-consuming and cumbersome for large numbers of samples
Real-Time PCR	Amplification and interrogation happen in a single step Focuses on variants of known significance Good for interrogating low numbers of targets (e.g. 1-20)	Can't discover novel PGx biomarkers Primers and probes are often proprietary
Microarrays	Can identify tens of thousands of PGx biomarkers in thousands of samples per week with high-throughput workflows Good for clinical labs Can detect both SNPs and CNVs	Can't discover novel PGx variants (limited to variants included on the microarray) High sample quality required for gene deletion and duplication analysis
Next-Generation Sequencing (NGS): Exome and Whole-Genome Sequencing	Can discover novel variants, including possible new PGx biomarkers	Identifies variants of unknown significance and secondary findings that may not be PGx-related Exome sequencing can be difficult for hybrid genes and will miss variants outside of the exome Bioinformatic analysis can be complex, which is aided by specialized software tools

Microarrays for Pharmacogenomics Research

Microarrays have become an important technology in precision medicine, enabling clinical researchers to make significant advancements in the area of PGx research. The Infinium Global Diversity Array with Enhanced PGx Content provides coverage of high-priority PGx genes, representing a major step forward:

Genome-wide coverage of >44k PGx biomarkers
Automated, scalable workflow with a 3-day turnaround time
>6k variants from PGx databases, including PharmGKB, CPIC, PharmVar, and ClinVar

~500 CPIC variants available for interrogation, with >300 of them priority level A or B based on the strength of supporting clinical evidence³
High-impact, historically hard-to-discern PGx genes like CYP2D6, CYP2B6 and TPMT are now accessible due to workflow improvements that enable pseudogene disambiguation

Infinium Global Diversity Array with Enhanced PGx Content

Introducing the most comprehensive genotyping microarray on the market for pharmacogenomics research with >1.9M markers, access to high-impact PGx genes, and optional reporting software.

This trusted Infinium assay has been run on millions of samples, including use in the All of Us Research Program. It provides a cost-effective, end-to-end solution with star allele calling and metabolizer status reporting, allowing for consolidation of multiple assays onto a single chip. View Array

Featured Pharmacogenomics Research Workflow

This rapid, three-day workflow allows users to gather and report data quickly and run up to 1728 samples per week using a single iScan System. Targeted gene amplification runs concurrently with whole-genome amplification during day 1 of the 3-day protocol. The workflow is highly scalable and can be automated with robotic liquid handlers.

Process

Infinium Global Diversity Array with Enhanced PGx Content

Scan

iScan System

Track, Analyze & Report

GenomeStudio Software

Hear from Pharmacogenomics Thought Leaders

Challenges of Implementing PGx in Clinical Practice

Experts discuss how easy-to-use clinical reports and broader public awareness may help integrate PGx in clinicians' day-to-day practice.

PGx Applications and Future Vision

Experts review areas where PGx can have the most impact such as psychiatry, oncology, pain medication, and drug interactions.

Personalized Medicine Based on Common and Rare Genetic Variants

Dr. Lili Milani and her team at the Estonian Biobank have been using OMICS profiling data (including WGS, WES, and genotyping) from biobank participants to identify rare mutations, develop polygenic risk scores, and conduct PGx research.

The team is looking for genetic variants associated with adverse reactions to specific medications and studying how to translate existing genomic data into meaningful guidelines.

View Webinar

Implementing PGx in Estonian Healthcare

Dr. Tonu Esko describes the Estonian Biobank initiative and its efforts to implement pharmacogenomics at the national healthcare level. He talks about two ongoing pilot prevention programs for cardiovascular diseases and breast cancer.

His presentation covers collection of polygenic risk score research data from biobank participants, ways of integrating PGx screening programs into the clinical setting, and media strategies to sensitize public opinion on the benefits of PGx initiatives.

View Webinar

Identify Novel Pharmacogenomic Biomarkers

Whole-genome sequencing with NGS technology provides a high-resolution, base-by-base view of the entire genome, ideal for discovery applications such as novel PGx biomarker identification.

Learn More About WGS

Scientists Discuss Pharmacogenomics Applications

Bringing Meaning to Genetic and PGx Information

MyDNA co-founder Allan Sheffield discusses development of a pharmacogenomics service and meaningful genetic test reports.

Genetic and PGx Data Matchmaking for Researchers

A biobank project helps scientists connect with those who wish to share their genetic data for research and have rare genetic variants associated with outcomes such as metabolizing certain medicines differently.

Scaling an Efficient Genotyping Facility

The cofounder of a company focused on PGx, nutrigenomics, and chronic diseases discusses switching from real-time PCR to high-throughput microarray and next-generation sequencing technologies.

The Impact of PGx on Precision Medicine

Dr. Howard McLeod, PharmD discusses how genes affect drug metabolism, how pharmacogenomics is turning "fishing expeditions" into precision care, and what needs to be done to integrate PGx applications into routine care.

Listen to Podcast

Barriers and Opportunities to PGx Implementation

Dr. Ronald Leopold discusses implementation of PGx screening in the healthcare industry. The conversation explores barriers to PGx program adoption, the future of precision medicine, and a paradigm shift away from reimbursement to value-based healthcare.

Listen to Podcast

Featured Publications

Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience

Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions

Economic burden of adverse drug reactions and potential for pharmacogenomic testing in Singaporean adults

References

Reisberg S et al. Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions. Genet Med. 2019 Jun;21(6):1345-1354.
Catriona Hippman and Corey Nislow. Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges. J Pers Med. 2019 Sep; 9(3): 40.
The FDA has evaluated a large number of pharmacogenetic associations and documented those in which sufficient evidence suggests a sub-population of people would exhibit altered drug metabolism. See Table of Pharmacogenetic Associations

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Pharmacogenomics

Understand how variations in the human genome affect our response to medications

Using pharmacogenomics to maximize the benefits of medications and reduce health care costs

Benefits of Pharmacogenomics

Patient Story: Mehri’s Journey to Wellbeing Through Pharmacogenomic Testing

Importance of PGx

Cost-Effectiveness of Pharmacogenomic (PGx) Testing

Technology Comparison

Advantages and Disadvantages of Common PGx Technologies2

Microarrays for Pharmacogenomics Research

Infinium Global Diversity Array with Enhanced PGx Content

Featured Pharmacogenomics Research Workflow

Process

Infinium Global Diversity Array with Enhanced PGx Content

Scan

iScan System

Track, Analyze & Report

Advantages and Disadvantages of Common PGx Technologies²