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 The field of pharmacogenomics 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:
Decrease the cost of healthcare expenditures by:
|Next-Generation Sequencing (NGS): Exome and Whole-Genome Sequencing||
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:
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.
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.
Experts discuss how easy-to-use clinical reports and broader public awareness may help integrate pharmacogenomics in clinicians' day-to-day practice.
MyDNA co-founder Allan Sheffield discusses development of a pharmacogenomics service and meaningful genetic test reports.
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.
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.
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 meaningful guidelines.View Webinar
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 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 Webinar
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 More
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Polygenic risk scores represent the total number of genetic variants an individual has that increase their risk of developing a particular disease.
Analyze the human microbiome with experimental techniques such as shotgun metagenomics, 16S rRNA metagenomics, and metatranscriptomics.
Genomic neuroscience research with next-generation sequencing and microarray tools is advancing our understanding of neurological diseases and the nervous system.