Abstract
Bionano Genomics is a life sciences instrumentation company in the genome analysis space. The company develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new cancer diagnostics and therapeutic targets and to modernize the practice of cytogenetics, providing a streamlined workflow with superior results.
Bionano's Saphyr system is a genome imaging platform that combines powerful optics for single molecule detection with nanotechnology to sequence patterns of specific DNA sites across the whole genome to define the structure of the genome and reveal variations in structure that drive disease. What makes Saphyr unique are the nanochannel arrays at the heart of the Saphyr Chip. Each chip has hundreds of thousands of tiny channels that unravel and uniformly linearize ultra-long DNA chromosomal fragments from solution so they can be imaged with their native structure intact.
Researchers in genetic diseases and cancer are only just beginning to write the stories of how variation in the genome are linked to the pathology they see in the clinic. To date, their explorations have been limited to studies of single base pair changes and certain structural variations (SVs) due to the inability of current genome analysis tools to reliably, comprehensively, and efficiently detect SVs. Saphyr is the solution to the SV detection challenge researchers have been seeking. It provides near 99% sensitivity to most structural variations and reveals them even if they are present in relatively low abundance (down to about 5% allele fraction), which is common in cancer.
Researchers working in these indications can finally add a completely new perspective on genome variation to their studies. We believe Saphyr improves their chances of revealing novel potential therapeutic targets and diagnostic biomarker signatures that would otherwise be completely missed.
The biggest opportunity for Bionano in the next five years is to make Saphyr available to clinical cytogeneticists as a research-use-only platform they can adopt and validate for use in their certified laboratories for patient testing. Saphyr has the potential to dramatically simplify the traditional workflow in cytogenetics by streamlining it and giving them results that may be superior to the ones they get today. The areas we expect to see adoption initially are genetic diseases and blood cancers, with eventual expansion into solid tumors.
The modernization of the traditional cytogenetics lab is an opportunity that Saphyr is uniquely suited for and we are enthusiastically pursuing it. Our product development roadmap is centered on enabling this objective by making Saphyr faster and more cost efficient as well as easier to use. We accomplish these tasks by increasing the capacity of the Saphyr Chip so it can run more patients per consumable, and we make the process easier by automating the sample preparation and data analysis steps. The simpler the Saphyr is to run and the more accessible it is to researchers and clinicians, the more studies will include it, which in turn accelerates the path to novel discoveries that impact patient management.
