In an insightful interaction with BioPharma APAC, Joanne Tsarouha, Sr. Product Manager of Microarray Technology at Thermo Fisher Scientific, delves into the innovative features and far-reaching implications of the Axiom™ PangenomiX Array. This cutting-edge genomic tool addresses critical challenges in disease and pharmacogenomic research, offering diverse content coverage across populations, overcoming ethnic diversity limitations in datasets, and paving the way for proactive care in the evolving healthcare landscape. Tsarouha highlights the array's unique attributes, its role in supporting future research endeavors, and Thermo Fisher's commitment to contributing to the transformation of healthcare through genetics.

What makes Thermo Fisher's Axiom™ PangenomiX Array significant in the context of large-scale disease and pharmacogenomic research?

The Axiom PangenomiX Array diverse content coverage encompasses

• Genome-wide association study (GWAS) imputation module with ~800,000 markers across all ancestral populations
• Evidence-based markers for relevant variants, including ClinVar and ACMG 73 for comprehensive gene coverage
• Pharmacogenomics (PGx) variants cited in Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines and Pharmacogenomics Knowledge Base (PharmGKB) 
• Disease-related variants (Alzheimer’s disease, cancer, cardiovascular and cardiometabolic diseases, diabetes, and neurological disorders)

And more. This curation of content covers the common disease found in high frequency in most populations and leading contributors to high healthcare cost and burden. Likewise, the pharmacogenomics content comes directly from the expert pharmacogenomic associations that dictate what gene-drug interactions should be studied and results from research via Axiom PangenomiX Array may lead to improving medication and patient management in the future. 

How does the PangenomiX Array address the current limitations in genomic datasets, particularly in terms of ethnic diversity, and what impact does it foresee on disease research and drug development?

Axiom PangenomiX Array was expertly designed to cover markers associated with common diseases and pharmacogenomics across global ethnic groups, including European, African, admixed American, East Asian, and South Asian populations. This advancement towards diverse and inclusive genomic coverage will enable scientists researching polygenic risk scores, stratifying populations based on phenotypes, and performing pharmacogenomics testing to have the broadest coverage for their populations and cohorts, something that has previously defaulted to predominantly Caucasian coverage and Caucasian data sets. This will lead to broader understanding of potentially how a disease impacts a wider net of people and how countries and healthcare systems can use this information in the future to improve patient care and reduce unnecessary healthcare costs.

Can you elaborate on the unique features of the PangenomiX Array, including the combination of four assays in one test and its potential applications to support future disease risk detection, drug efficacy testing, and ancestry testing?

The Axiom PangenomiX Array can be used to analyze the whole genome, from as little as 100 ng genomic DNA, and enable target SNP identification, copy number variant (CNV) analysis, human leukocyte antigen (HLA) and blood typing in a cost-effective assay with plug and play data analysis. Traditional methods to study any of these aspects would rely on individual testing methods and/or technologies. For example, researchers might run a few different PCR assays and sequencing to capture all the information provided with one Axiom PangenomiX Array. This streamlines the research of disease association studies and pharmacogenomics and the high throughput format of the array can support large volumes of national genomics programs, healthcare system patient research groups, and large academic cohorts.

How does Thermo Fisher aim to contribute to the evolving healthcare model, and how does the PangenomiX Array align with the industry's shift towards proactive care by incorporating genetics into disease risk prediction and treatment decision-making?

Axiom PangenomiX Array aims to bring the whole genome in a cost effective and high throughput format to all researchers searching for ethnically diverse and broad disease coverage. This easy-to-use array gives quick answers to research questions so that clinical utility of biomarkers, polygenic risk scores and pharmacogenomics can become real, and be utilized as proactive and pre-emptive methods.

Note : “Axiom PangenomiX Array is for Research Use Only. Not for Diagnostic Use.”