Breakthrough Genomics leads the way in using AI for the clinical interpretation of genomic data.
The company operates a CAP and CLIA-certified genomics lab to provide cutting-edge tests for genetic risk assessment, rare disease diagnosis, and early cancer detection.
The mission of the company is to improve access to advanced life-saving tests and precision medicine both in the U.S. and around the world.

Welcome to Breakthrough Genomics

Breakthrough Genomics is a technology-driven company at the forefront of AI-powered genomic data analysis and clinical interpretation. It also provides genetic testing for NICU/PICU care, rare diseases, and early cancer screening through its CAP/CLIA-certified laboratory.

At the heart of our innovation is Virtual Geneticist®, a first-of-its-kind clinical interpretation platform powered by AI. This platform streamlines genomic data interpretation, enabling users to rapidly and accurately identify disease-causing variants. By accelerating and enhancing the diagnostic process, Virtual Geneticist is redefining the future of rare disease diagnostics—making it faster, smarter, and more accessible.

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Introducing Virtual Geneticist® (VG)

Virtual Geneticist® is Breakthrough Genomics’ proprietary AI-powered clinical interpretation platform, developed to accelerate and enhance the analysis of whole exome (WES) and whole genome (WGS) sequencing data. Purpose-built for rare disease diagnostics, VG harnesses advanced AI models to rapidly and accurately prioritize potential disease-causing variants, drawing on a comprehensive knowledge base of over 180 million variants with automated ACMG classifications and 11 million interpreted variant–literature associations.

The platform delivers ACMG-guided interpretations through structured, evidence-based summaries and has demonstrated improved diagnostic outcomes in previously unsolved clinical cases. Designed for speed, scalability, and ease of integration, Virtual Geneticist® fits seamlessly into standard laboratory workflows and supports all major sequencing technologies.

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Press Releases

Healthcare AI Company Breaks Through Final Barrier for Automated Genome Interpretation^™

Breakthrough Genomics Launches First-of-its-Kind Interpreted Literature Database for Virtual Geneticist^™

Breakthrough Genomics Joins Forces with the PRECEDE Consortium to Help Accelerate the Early Detection of Pancreatic Cancer

BREAKTHROUGH GENOMICS is Proud to be Among the Top Contributors to the ClinVar Database for Rare Disease Variants

KNOWN GENETIC VARIANTS

SCIENTIFIC PUBLICATIONS SCANNED

SAMPLES PROCESSED

Testimonials

Why Choose Us

AI-Driven Variant Prioritization
Accessible and Cost-Efficient

Fast, Scalable Turnaround
Sequencer-Agnostic and Workflow-Compatible

Transparent, Evidence-Backed Interpretations
Laboratory-Validated Integration

Our Services

- Clinical Genomic Analysis with Next-Generation Computing
  Breakthrough Genomics leverages the company’s proprietary technology and hands-on experience in clinical genomics to help solve the biggest challenges
  in precision medicine.
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- Early Cancer Detections
  The company’s early cancer detection tests revolutionize screening for a range of cancers, including pancreatic cancer, colon cancer, stomach cancer, liver cancer, and more, using just a simple tube of blood. These tests have received prestigious recognition, including the FDA Breakthrough Device grant and the EU IVDD certificate.
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- Advanced Genetic Tests
  Breakthrough Genomics offers a wide range of advanced genetic tests from hereditary cancer and cardiovascular screening to rare disease diagnosis and rapid Whole Genome and Whole Exome tests for the NICU and PICU.
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