**Axiom Precision Medicine Research Chip**
Precision medicine is a groundbreaking approach that moves beyond traditional empirical and evidence-based medicine. It emphasizes the comprehensive consideration of an individual's genetic, environmental, and lifestyle factors in diagnosis and treatment. This personalized strategy aims to achieve accurate prevention, diagnosis, and disease management tailored to each person.
In response to the growing demand for precision medicine, Affymetrix introduced the Axiomâ„¢ Precision Medicine Research Array (PMRA) in 2016. Designed to be cost-effective while delivering high-quality results, this chip contains 900,000 SNP probes that cover the entire genome on average. The PMRA also includes SNPs from the latest GWAS catalog (updated to May 2016), ensuring it reflects the most up-to-date clinical research findings.
The Axiom PMRA is ideal for scientists working in basic laboratories, clinical settings, and genomic analysis organizations. It helps researchers better understand the complex interactions between human genetics and susceptibility to various diseases. The chip supports tasks such as susceptibility locus detection and genotyping, offering guidance on medication and treatment options.
One of the key features of the PMRA is its coverage of common variants across five major ancestral populations: African (AFR), European (EUR), Mixed American (AMR), East Asian (EAS), and South Asian (SAS). These markers are selected using a patent-based imputation strategy, making the chip suitable for genome-wide association studies (GWAS) and genetic linkage analyses.
The PMRA also includes clinically significant pathogenic mutations associated with population-wide genetic risks. It covers common cancer-related variations identified by GWAS and meets the standards set by NHGRI-EB. Additionally, it includes immunization and transplant-related variations, such as HLA markers and KIRs, which help deepen understanding of rejection risks in transplant studies.
The chip also provides markers related to blood phenotypes, including those involved in red blood cell regulation and platelet function. To ensure sample tracking, it uses fingerprint SNPs from the University of Washington and MIT-Broad Institute, which are compatible with multiple genotyping platforms.
High performance is another hallmark of the Axiom PMRA. It offers reproducible results with no loss of SNP markers between batches. Genotyping evaluations were conducted on 288 samples, including HapMap samples, under strict quality control criteria.
Long-term research projects, such as large-scale cohort studies, require consistent and reliable tools. The Axiom PMRA guarantees 100% fidelity in chip content, ensuring continuity in long-term studies. Unlike bead-based technologies, which may experience batch-to-batch variation, the Axiom process ensures all tags are included in every manufacturing lot.
The chip also covers thousands of new risk variants related to human diseases and health conditions. It includes causal variants from ClinVar, such as the ApoE marker linked to Alzheimer’s disease. No other chip currently offers such comprehensive coverage.
In terms of cancer risk, the PMRA includes over 17,000 variants from the NHGRI-EBI GWAS catalog, covering various types of cancer like rectal, prostate, ovarian, lung, and breast cancer. For mental health and behavioral traits, it includes over 19,000 variants, some of which are associated with neurosis based on UK Biobank data.
The chip also covers immune-related mutations, including autoimmune and inflammatory variants, such as those linked to ulcerative colitis, Crohn’s disease, Type I diabetes, and celiac disease. It also includes novel variants related to narcolepsy.
Additionally, the PMRA detects loss-of-function (LoF) variations that can disrupt protein-coding genes, including rare and potentially harmful LoF alleles. It contains over 1,000 autosomal recessive variants and more than 500 autosomal dominant predictive variants.
For cardiovascular diseases, the chip covers common conditions such as hypertension, atrial fibrillation, coronary heart disease, and others. Overall, the Axiom PMRA is a powerful tool for researchers seeking to advance precision medicine through comprehensive and reliable genetic analysis.
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