Healthcare AI Company Breaks Through Final Barrier for Automated Genome Interpretation

IRVINE, Calif., April 15, 2025 /PRNewswire/ -- Breakthrough Genomics, a California-based leader in AI-driven rare disease diagnostics, announced today a groundbreaking achievement in genome interpretation. The company reports that it has successfully analyzed and extracted clinical insights from tens of millions of scientific publications on genetic disease.

Despite countless advances in understanding how a person's genetic code influences their overall health and likelihood to develop disease, the diagnosis of rare disease, especially in children, is still considered one of the steepest challenges for diagnostic labs. Far too many cases go unsolved, leaving patients and their families without an answer to their loved one's debilitating condition.

Leveraging their proprietary AI-driven genetic language model, Breakthrough Genomics has now completed the world's first fully-interpreted variant literature database that helps solve undiagnosed cases while drastically reducing the time needed for a medical geneticist to review an individual's whole genome. 

In analyzing a typical rare disease case, a medical geneticist often spends 2 to 3 hours reviewing dozens of scientific publications to evaluate whether a given genetic variant is responsible for causing a patient's condition. This tedious process of literature review not only leads to manual errors which are common, but it has also led to a significant bottleneck in efficiency that impacts the entire industry.

With the company's new interpreted variant literature database, geneticists can now instantly access concise, structured summaries of each relevant paper for more than 10 million genetic variants. The information contained in each summary includes gene-disease associations, patient-variant information, experimental and functional studies, and family-based segregation analyses that are all required for variant classification based on the guidelines set out by the American College of Medical Genetics (ACMG). 

Automating this complex process has been a Holy Grail of countless diagnostic companies and until now has not been achieved at scale or with the accuracy needed to drive up overall diagnostic yields.

Breakthrough Genomics' CEO and Board-certified Medical Geneticist Dr. Laura Li (PhD, FACMGG) emphasizes the impacts, "Our AI and clinical molecular geneticists have worked for years to accomplish this technical feat and we have finally reached a milestone that will fundamentally change the landscape of rare disease diagnosis."

Testament to the company's prowess in rare disease diagnosis, a recent study by British Columbia Children's Hospital found that the company's AI-powered Virtual Geneticist^™ Platform allowed them to immediately solve an additional 10% of their previously undiagnosed clinical cases. In the study, clinicians were able to process 800 Whole Exome cases within 5 hours and find the correct the diagnostic variant in a Top 10 List 99% of the time. The study also demonstrated that the time required for a clinician to individually analyze a given case went from hours to only minutes.

The newly released literature database is available through a yearly subscription to Breakthrough Genomics' Virtual Geneticist^™ Platform or it can be accessed separately through API integration within a customer's existing workflow.

For more information, visit vg.btgenomics.com

For all inquiries, contact Scott Braman - [email protected]

SOURCE Breakthrough Genomics