Dr. Laura Li, CEO & Founder
Within the last few years, next-generation sequencing (NGS), or deep sequencing, has had profound impacts on nearly every field of medicine. As the number of clinical applications of NGS has expanded and the price of the sequencing itself has plummeted, there now exists a critical bottleneck: how to make sense out of all of the genomic data that has been produced and how to do it in a way that is both fast and accurate? In a clinical setting, labs and hospitals have to invest in expensive bioinformatics teams and time-consuming, manually-intensive procedures for genomic analysis, and the process of getting to the results is often complicated and long.
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 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.
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.”