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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KNOWN GENETIC VARIANTS

SCIENTIFIC PUBLICATIONS SCANNED

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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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