Benefits of Pharmacogenomics
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 Pharmacogenomics research can lead to better outcomes for both individuals and healthcare providers through improved medication safety and efficacy and lowered medical costs.
By leveraging pharmacogenomics research, healthcare providers will ultimately be able 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
Use genomics to decrease the cost of healthcare expenditures by:
- Identifying the most appropriate and affordable drug the first time
- Reducing adverse drug reactions early in treatment, thus positively impacting: hospital length of stays, hospital readmissions, and emergency room visits
Importance of Pharmacogenomics
Pharmacogenomics and personalized medicine experts share their perspective on PGx and its current state in their respective countries.
Pharmacogenomic Technologies
Advantages and Disadvantages of Various PGx Technologies2
| Technology | Advantages | Disadvantages |
|---|---|---|
| Sanger Sequencing |
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| Real-Time PCR |
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| Microarrays |
|
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| Next-Generation Sequencing (NGS): Exome and Whole-Genome Sequencing |
|
|
Microarrays for PGx Biomarker Analysis
Microarrays have become an important tool in precision medicine, enabling clinical researchers to make significant advancements in the area of pharmacogenomics 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 pharmacogenomic 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.
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
Scan
Track, Analyze & Report
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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 pharmacogenomics in clinicians' day-to-day practice.
Pharmacogenomics Applications and Future Vision
Experts review areas where pharmacogenomics can have the most impact such as psychiatry, oncology, pain medication, and drug interactions.
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 pharmacogenomics, nutrigenomics, and chronic diseases discusses switching from real-time PCR to high-throughput genotyping microarrays and next-generation sequencing.
Webinars: PGx and Personalized Medicine
Personalized Medicine Based on Common and Rare Genetic Variants
Dr. Lili Milani discusses the personalized medicine initiative she’s leading at the Estonian Biobank. Dr. Milani and her esearch group have been using OMICS profiling data (including WGS, WES, and genotyping) from biobank participants to identify rare mutations, develop polygenic risk scores, and conduct pharmacogenomics studies.
The team is looking for genetic variants associated with adverse reactions to specific medications and studying how to translate existing genomic data into reports and prescription guidelines.
View WebinarImplementing PGx in 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 data from biobank participants, ways of integrating pharmacogenomics screening programs into the clinical setting, and media strategies to sensitize public opinion among both the population and clinicians on the benefits of pharmacogenomics.
View WebinarIdentify Novel PGx Biomarkers
NGS-based whole-genome sequencing provides a high-resolution, base-by-base view of the entire genome, ideal for discovery applications such as novel biomarker identification.
Learn MoreFeatured Pharmacogenomics Research 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
Related Solutions
Oncology
Illumina NGS and microarray technologies for cancer research are helping drive the revolution in cancer genomics.
Complex Disease Genomics
Comprehensive array and next-generation sequencing solutions to accelerate research of various genetic complex diseases.
Genetic & Rare Diseases
NGS technology is helping to drive breakthroughs in genetic disease testing by facilitating early detection and diagnosis.
Polygenic Risk Scores
Polygenic risk scores represent the total number of genetic variants an individual has that increase their risk of developing a particular disease.
Microbiome Analysis
Analyze the human microbiome with experimental techniques such as shotgun metagenomics, 16S rRNA metagenomics, and metatranscriptomics.
Neurogenomics
Genomic neuroscience research with next-generation sequencing and microarray tools is advancing our understanding of neurological diseases and the nervous system.
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