Healthcare AI Company Unveils Automated Genome Interpretation

Rare Daily Staff

Breakthrough Genomics, an AI-driven rare disease diagnostics company, said it has successfully analyzed and extracted clinical insights from tens of millions of scientific publications on genetic disease, a development that sets the stage for automated interpretation of genomes.

The company said that this would help solve undiagnosed cases while drastically reducing the time needed for a medical geneticist to review an individual’s whole genome.

Despite advances in understanding how a person’s genetic code influences their overall health and likelihood to develop disease, the diagnosis of people with a rare disease continues to be a challenge for diagnostic labs. Many cases go unsolved.

In a typical rare disease case, a medical geneticist often spends two to three hours reviewing dozens of scientific publications to evaluate whether a given genetic variant is responsible for a patient’s condition. This manual literature review process is not only inefficient and prone to errors, but also creates bottlenecks across the 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. Each summary includes gene-disease associations, patient-variant information, experimental and functional studies, and family-based segregation analyses, all of which are required for variant classification based on the guidelines set out by the American College of Medical Genetics.

The company noted a recent study by British Columbia Children’s Hospital that found that the company’s AI-powered Virtual Geneticist Platform enabled clinicians to immediately solve an additional 10 percent of previously undiagnosed clinical cases. In the study, clinicians processed 800 whole exome cases within five hours and identified the correct diagnostic variant in a top 10 list 99 percent of the time. The study also demonstrated that the time required for a clinician to analyze a given case went from hours to just minutes.

“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,” said Breakthrough Genomics’ CEO Laura Li.

Photo: Laura Li, CEO of Breakthrough Genomics