Earlier this year, scientists unveiled the first draft of the pangenome, based on full genetic blueprints from 47 people around the world to create a more diverse representation of the human genome.1 To more accurately account for this richer picture of human genomic variation, Thermo Fisher Scientific has launched the new Axiom PangenomiX Array*, the company’s largest and most ethnically diverse array to date, offering optimal genetic coverage for population-scale disease studies and pharmacogenomic research.  

Current large-scale genomic datasets, which are used for downstream meta-analysis to build and understand disease risk prediction models, are predominantly based on European and Caucasian cohorts. With an increasingly diverse and blended global community, there is an urgent need for ethnically diverse data sets to drive genetic insights in other populations, such as African, Asian, and increasingly mixed populations, the company says. Furthermore, the healthcare industry is increasingly moving toward a proactive care model, highlighting the importance of conducting research on the role of genetics in disease risk and drug response.  

The PangenomiX Array is currently the only research solution that combines four assays in one test: SNP genotyping, whole genome copy number variant detection, fixed copy number discovery, blood and HLA typing, according to Thermo Fisher Scientific. The high-throughput array is designed to advance disease risk and detection research, population-scale disease research programs, ancestry and wellness testing, drug efficacy testing, and drug development research.  

Inclusive of clinically relevant pharmacogenomic markers and pathogenic variants, the PangenomiX Array offers researchers enhanced whole-genome imputation and a high level of diversity for testing different ethnicities to keep pace with the growing understanding of the genome. The array has already been used to analyze nearly half a million ethnically diverse samples at a predominant biobank in the U.S. to advance more inclusive research studies related to the prevention, diagnosis, and treatment of disease, the company says.

Further reading: Thermo Fisher Signs Distributor Agreement with Aesku for IFA Test Kits, Instruments

“With more diverse genomic data sets, population-scale testing for diseases is reaching even greater heights with long-term ramifications for our understanding of human disease, drug development, pharmacogenomics and ancestry,” says Kim Caple, president, genetic sciences, Thermo Fisher Scientific. “The research projects underway today will usher in a new standard of care for the future, with healthcare providers routinely using patients’ genetic information to predict disease risk and improve treatment decision-making. With its depth and breadth of coverage, the PangenomiX Array offers a cost-effective, accurate and reproducible solution that builds on our 30+ years in dedicated microarray research and testing with the goal of powering research that helps people live longer, healthier lives.”  

Photo: Thermo Fisher Scientific


*The PangenomiX Array is for research use only. Not for use in diagnostic procedures. 

1 https://www.nytimes.com/2023/05/10/science/pangenome-human-dna-genetics.html