An Introduction to Virtual Geneticist
Ground-breaking technology for comprehensive genomic interpretation.
Virtual Geneticist (VG) provides precise variant ranking, an interpreted literature database, and streamlined ACMG interpretation. Available through scalable workflows or flexible API-based integration.
Leading by Example
Breakthrough Genomics is led by Dr. Laura Li, PhD, FACMGG — a U.S. board-certified Medical Geneticist with more than 25 years of experience spanning clinical laboratory leadership, molecular biology, and cutting-edge genomic medicine. Prior to founding Breakthrough Genomics, Dr. Li held positions at Quest Diagnostics, Children's Hospital Los Angeles, and Illumina where she was the clinical director of their prestigious IHope Program.
“The field of human genetics poses huge and unique challenges that go far beyond the capabilities of even the most advanced AI systems. So it really requires clinical expertise and a revolutionary approach to match the complexity of the field. After years of hard work, I believe that we have finally achieved this milestone that will fundamentally change the landscape of rare disease diagnosis.”
Laura Li
, PhD, FACMG
Speaking on the launch of the world’s first fully-interpreted
variant literature database, April 2025
Shaping the Future of Genomic Interpretation
Breakthrough Genomics’ vision is to become the global leader in clinical genomic interpretation. We deliver best-in-class genomic analysis solutions that help laboratories, healthcare systems, and pharmaceutical companies unlock the full value of genetic data, scale diagnostic capacity, and accelerate drug discovery.
AI is at the core of our strategy. By integrating advanced AI capabilities across our products, we are setting a new standard for genomic interpretation – driving greater accuracy, efficiency, scalability, and clinical impact across the genomics field.
Scaling Genomic Analysis
Despite decades of progress, genomic analysis still faces a growing challenge in the way genomic data is interpreted and acted upon.
Our ground-breaking Virtual Geneticist platform is built to break this bottleneck by scaling genomic medicine through a transparent, and evidence-driven intelligent infrastructure that is easy to deploy and helps clinical teams solve more cases, with more confidence, faster.
Empowering Precision Medicine
Our technology is also essential to increase access to life-saving initiatives like newborn screening and preventative testing that have likewise been slow to be widely adopted for concerns around cost and uncertainty.
That is now rapidly changing as our hyper-fast and comprehensive analysis tools help clinicians identify serious genetic conditions earlier — when interventions can have the greatest lifelong impact.
Solving Rare Disease
Too many rare disease cases remain unresolved for too long leaving patients and their families waiting for answers they desperately need. This is what guides us in providing the world’s most advanced diagnostic system to make solving the most difficult cases routine.
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