Integrated genomic risk.
ARC-OMIX combines polygenic risk scores with rare-variant analysis and family history. Every test runs on one blended genome-exome (BGE) sequencing pipeline, so each module shares the same validation and every report follows the same guideline-anchored format.
A multiplicative absolute-risk model.
Each signal below is scored on its own, then applied as an independent multiplier on a clinical baseline: for coronary heart disease, the AHA PREVENT equations in ARC-PREVENT Premium reports (validation to date is benchmarked against the Pooled Cohort Equations), and the matching clinical algorithm for each other condition. For example, a 7.5% baseline × 1.4 (polygenic score) × 1.0 (no rare variant) × 1.2 (family history) gives 12.6%. Because the signals only partly overlap, combining them reclassifies patients near the action threshold.
Polygenic risk scores
Ensemble scores built with PRSMix, a method that combines many published polygenic scores into one model per condition, then ancestry-calibrated on genotype-derived principal components (measured ancestry, not self-report). It is the core signal in every ARC-OMIX test: ARC-PREVENT Essential reports it on its own, ARC-PREVENT Premium combines it with family history and a clinical baseline, and ARC-CHOL pairs it with rare-variant classification.
Rare-variant classification
Variant classification follows the gene-specific ACMG/AMP rules issued by the ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel, co-chaired by our founder, with independent two-reviewer sign-out. Adding a polygenic score alongside monogenic testing improves diagnostic breadth — identifying a likely genetic contributor to severe hypercholesterolemia in more patients than monogenic testing alone.
Family history
Part of ARC-PREVENT Premium. Structured family history is collected at ordering and applied as a multiplier on baseline risk, alongside the polygenic and rare-variant signals.
How ARC-OMIX scores are trained.
Every ARC-OMIX score moves through the same four-stage pipeline before it reaches a report: trained on large multi-ancestry cohorts, then calibrated and quality-checked before it’s ever used clinically.
See how the pipeline fits your workflow.
See what each ARC-OMIX test includes, or read how ordering and reporting will fit your practice.