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Dr. Laura Li, CEO & Founder Consequently, the main challenge to hospitals and labs today is to interpret the high volume of clinical genomic data accurately so that high quality insights can be delivered in a timely manner to physicians and the correct treatment plan can be provided to patients and their families.
This is the scenario that Dr. Laura Li (FACMGG), then a faculty member of University of Southern California, highlighted in her 2016 research paper, “Interpretation of Clinical Next- Generation Sequencing Data: A Hurdle to Jump Over.” In the same article, she detailed how the diagnostic yield of the clinical exome is just around 25 percent and requires a laborious manual interpretation process.
Driven by her passion for addressing the challenges of NGS, Dr. Li went ahead to lay the cornerstone of Breakthrough Genomics, a leader in genomic data interpretation and analysis. Breakthrough Genomics’ ENLITER platform leverages the power of machine learning (ML) and artificial intelligence (AI) for the analysis of genomic data. Through its secure, online platform Breakthrough Genomics offers an accurate and efficient clinical analysis and reporting tool that is transforming how genetic diseases are currently being diagnosed.
“We combined AI/ML with genomic medicine to dramatically increase diagnostic efficiency and help clinicians to rapidly zoom in on the genetic cause for a certain disease,” says Dr. Li, the CEO and founder of Breakthrough Genomics.
Our biggest innovation is our ability to intelligently scan millions of scientific publications and terabytes of genomic data to create an almost instantaneous automated genomic interpretation pipeline
ENLITER utilizes both the genomic data and the patient’s clinical information to rank and prioritize disease-causing variants on top. Scott Braman, director of marketing at Breakthrough Genomics, remarks, “With our solution one geneticist can do the work of a team of geneticists and is both accurate and always up-to-date with the latest scientific literature.”
To help its customers stay compliant with regulatory protocols, the ENLITER platform also provides clinical-grade tools and supporting evidence including an up-to-the-minute literature presentation for each genetic variant, a powerful free text phenotype filter, and a detailed copy number and structural variant analysis.
“One of our biggest innovations is our ability to intelligently scan millions of scientific publications and terabytes of genomic data to create an almost instantaneous automated genomic interpretation pipeline,” adds Dr Li. And, if one equates the number of happy clients to be the testament of a company’s prowess, Breakthrough Genomics has dozens of satisfied customers of their ENLITER platform. Jennifer Apra CIO, Principal Investigator at Vision Center - Children’s Hospital Los Angeles, comments, “The wealth of information (e.g. viewing of the supporting reads in IGV, ACMG evidence, and clinical information) ENLITER places at one’s fingertips regarding each variant is extremely helpful for rapid variant assessment.”
Proving its mettle as a trustworthy companion to geneticists and physicians, Breakthrough Genomics will apply its patented AI technology to revolutionize cancer genomics, diagnose multigenic hereditary diseases, and enable entirely new discoveries in genomic medicine. On a concluding note, Dr. Li says, “ENLITER is ready to be deployed in high volume labs to analyze the most difficult cases. Breakthrough Genomics is part of the driving force for moving precision medicine into the next frontier, helping cure cancer and other rare diseases.”
Company
Breakthrough Genomics
Management
Dr. Laura Li, CEO & Founder and Scott Braman, Director of Marketing
Description
Combines AI/ML with genomic medicine to dramatically increase laboratory productivity and help clinicians to rapidly zoom in on the disease-causing varaint. The company’s secure online platform ENLITER mimics the workflow of a U.S. Board-certified medical geneticist and works with whole genome, whole exome, gene panel, and single-nucleotide polymorphism (SNP) array data to streamline how clinical labs and hospitals analyze genetic data. The critical feature that makes Breakthrough Genetics stand out in a competitive market is the company’s patent-pending technology that ensures clinical accuracy based on the latest literature to generate the highest quality report
The newly designed VG platform has a super-streamlined interface, allowing users to enter basic clinical information and the accompanying genomic data, and receive the correct results in minutes. Users will see that VG ' s stripped-down landing page functions more like a Google Search rather than the cumbersome and overly complicated onboarding procedures required by its competitors. This means VG can be easily used as a tool to analyze new genomic testing data or double-check results from prior tests, especially for cases when no diagnostic variant was identified.
A 2023 study conducted by clinicians at British Columbia Children ' s Hospital found that using VG helped them solve an additional 10% pediatric cases previously reported as negative. This is critical because a false negative report can often prevent newborns and children from receiving the most appropriate treatment or the clinical interventions they need. In the same study, VG was able to correctly identify the causal variant in a Top 10 List 99% of the time. Not only does this save a geneticist tedious work in sifting through unlikely variants, but it also enables them to quickly zero in and review the supporting evidence for the variants most likely responsible for the patient's condition.
Dr. Adrienne Elbert, who led the study at BC Children ' s Hospital, highlighted VG ' s ability to help clinicians like herself add more transparency to the process of variant interpretation, " Variant interpretation is becoming increasingly more complex, so having a tool like Virtual Geneticist allows me to quickly see how different phenotype terms selected for the analysis influences the ranking of the variants and it also allows me to contextualize any reported variant of unknown significance (VUS)."
Dr. Laura Li, founder and CEO of Breakthrough Genomics, stresses the role that AI plays in VG ' s ability to maximize efficiency and performance in evaluating difficult cases. " As a medical geneticist, I used to spend many hours on each case pouring through the different databases and publications, but with VG these once critical tasks can now be performed effortlessly and with a precision that is far beyond what a person alone can accomplish."
One example of how VG stands out from other platforms is its ability to instantaneously read and interpret variant classifications contained within individual publications. This saves users a significant amount of time and allows them to use the platform ' s other AI-powered tools for further analyses, including prediction of a variant's effect on 3D protein structure and detection of previously hard-to-diagnose conditions such as trinucleotide repeat expansions and spinal muscular atrophy.
Breakthrough Genomics aims to attract a wide variety of users to the platform including medical doctors and clinicians who in traditional workflows do not often get involved in variant analysis.
Dr. Cornelius Boerkel at BC Children ' s Hospital sees the clear benefit of using VG in his practice, " As a Medical Geneticist I am frequently perplexed by negative genetic test reports that I receive back from a commercial lab when I am convinced that the patient has a genetic disorder. By using Virtual Geneticist, I am able to analyze the data files that are generated by these commercial labs and verify on my own what are the most likely variants that explain the patient's disease. The platform ' s straightforward interface makes it easy for me, without requiring me to understand complicated bioinformatic programming or have extensive onboarding for using a particular software tool."