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:
Decrease the cost of healthcare expenditures by:
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.
Health economics and research findings support PGx testing. See the data supporting the value of PGx for institutions, physicians, and patients, and learn how PGx testing improves care.View Infographic
|Next-Generation Sequencing (NGS): Exome and Whole-Genome Sequencing||
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:
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
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 PGx in clinicians' day-to-day practice.
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
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
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
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 PGx, nutrigenomics, and chronic diseases discusses switching from real-time PCR to high-throughput microarray and next-generation sequencing technologies.
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
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
Illumina NGS and microarray technologies for cancer research are helping drive the revolution in cancer genomics.
Comprehensive array and next-generation sequencing solutions to accelerate research of various genetic complex diseases.
Polygenic risk scores represent the total number of genetic variants an individual has that increase their risk of developing a particular disease.
NGS can help pharmaceutical scientists identify potential drug targets, investigate disease-associated genetic variants, and develop targeted therapies.
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 technologies is advancing our understanding of neurological diseases and the nervous system.