Genome sequencing has revolutionized the health care field, opening the way to a new era of personalized medicine. It is now possible to sequence the entire human genome—all 3 billion letters of information— in about a day. But analyzing and interpreting the data is a slow, error-prone process that can take days, weeks or even months, thereby delaying discoveries.
In 2012, frustrated with this “bioinformatics bottleneck,” a team of U-M geneticists and cancer pathologists created a more efficient method for interpreting genome sequences. Within a year, they had developed a software solution able to deliver meaningful genetic results in minutes, providing actionable data for therapeutic companies targeting specific disease states and clinicians hoping to identify treatment options.
Dr. Mark Kiel notes that, until now, researchers and diagnosticians working with genomic data sets had to sort through dozens of databases and thousands of research articles to analyze gigabytes of patient data. “It can take up to 100 hours to analyze large data sets,” he notes. “But by automating the process, our solution allows users to go from raw data to meaningful results within minutes. ose results are presented in an intuitive, graphic display of data that is easy to interpret and prioritized for their specific clinical context or research question.”
Working with U-M Innovation Partnerships, a business model was created and additional product development was undertaken, funded in part by a $150,000 U-M MTRAC grant and a $40,000 Michigan Collegiate Innovation Prize. In 2015, GENOMENON was launched, led by CEO Mark Kiel. “Innovation Partnerships assisted with gap funds at a critical early stage, and was instrumental in creating the venture capital deal that launched the company,” said company cofounder Dr. Kojo S.J. Elenitoba-Johnson.
In an early proof-of-concept test, team members collected genome sequences from 50 patients to pinpoint genetic mutations involved in T-PLL, a fatal form of leukemia. Within minutes, GENOMENON software displayed meaningful results in an interactive graphic display. Based on this information, the team was able to locate recurrent mutations in approximately 75 percent of the patients and identify FDA-approved pharmaceuticals that appear to target the genetic pathogens.
Now, with assistance from Innovation Partnerships, $1 million in seed funding is in place with three products in the pipeline for researchers and clinicians. GENOMENON is poised to play a significant role in the $3.6 billion genome sequencing market.[caption: The creators of GENOMENON software include Steve Schwartz and Dr. Mark Kiel (pictured above) and Drs. Kojo S.J. Elenitoba-Johnson and Megan S. Lim (not pictured). Their suite of genome interpretation products has broad applications in the field of personalized medicine, ranging from cancer diagnostics and early cancer detection to constitutional diagnostics, noninvasive fetal testing, disease monitoring and universal screening of general populations.]
[source: U-M Innovation Partnerships 2015 Impact Report]