Breakthrough Genomics

Breakthrough Genomics leads the way in using AI for the clinical interpretation of genomic data

health AIgenomicsprecision medicine

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StageUnfunded

Raised$120M

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

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 systems (unspecified)standard 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