Founded2017
Employees8
LocationIrvine, CA
Business modelB2B/B2C SaaS + lab services
About
BREAKTHROUGH GENOMICS is a leader in the AI-powered clinical interpretation of genomic data. The company has developed two proprietary AI-powered genomic analysis platforms, which deliver high throughput genomics analysis with more accurate results.
Product
- Value proposition
- AI-powered clinical interpretation of genomic data to accelerate rare disease diagnostics and early cancer detection, with CAP/CLIA-certified lab testing
- Target customers
- biotech and pharma companies, clinical labs, hospitals, NICUs/PICUs, healthcare providers
- Regulatory
- not explicitly specified
Founders
- Laura Li — Founder & CEO
Categories
GenomicsAI in HealthcareClinical InterpretationLaboratory Services
Products
Virtual Geneticist® (VG)genomic testing servicesrapid whole genome/exome sequencinghereditary cancer screeningcardiovascular screeningearly cancer detection tests
Key features
AI-powered clinical interpretation platformACMG-guided interpretationslarge variant knowledge base (180M variants)11M literature-variant associationsintegration with standard lab workflowssupports major sequencing technologies
Technologies
AI/MLgenomicsWES/WGSACMG classificationsvariant prioritization
Integrations
EHRs / laboratory information systemsstandard laboratory workflows
Target conditions
rare diseasesearly cancer detectiongenetic risk assessmentcardiovascular disease risk
Care settings
laboratoryclinichospitalNICU/PICU care
Certifications
CAP-certifiedCLIA-certified
Awards
2024 Innovation Award for AI-driven rare disease diagnosis and early cancer detection (press release)
Traction metrics
CAP/CLIA-certified labACMG-guided interpretations180M variants knowledge base11M interpreted variant–literature associations
Competitors
other AI-driven genomic interpretation platforms (unnamed)
Investors
NorthBridge PEEarly Investors Consortium
News
- Breakthrough Genomics Showcases Largest Interpreted Literature Database and Unveils New AI Capabilities at ASHG 2025 · 2025-10-21T09:10:00.000Z
- Breakthrough Genomics Looks to Disrupt Rare Disease Diagnosis by Offering its Powerful Virtual Geneticist™ Platform for Free · 2024-10-08T14:01:00.000Z
- Healthcare AI Company Breaks Through Final Barrier for Automated Genome Interpretation · 2025-04-15T12:01:00.000Z
- Healthcare AI Company Unveils Automated Genome Interpretation - Global Genes · 2025-04-15T19:50:16.000Z
- Breakthrough Genomics Joins Forces with the PRECEDE Consortium to Help Accelerate the Early Detection of Pancreatic Cancer · 2024-11-21T13:01:00.000Z
- Updated Genome Reader Speeds Up Rare Disease Diagnosis | Clinical Lab Products · 2024-10-08T17:01:00.000Z
More links
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Profile updated Jul 29, 2026. Sources: btgenomics.com, genomeweb.com, vg-variant.btgenomics.com, vg.btgenomics.com
