Bionano Genomics focuses on genomic analysis, aiming to transform understanding of the genome. The company reveals the full spectrum of genomic variation, advancing knowledge of genetic information. This allows researchers and clinicians to uncover insights that impact human health.
Understanding Bionano’s Core Technology
Bionano’s primary tool for genomic analysis is Optical Genome Mapping (OGM), a non-sequencing technology providing a detailed view of genome structure. OGM works by isolating extremely long DNA molecules, typically over 300 kilobases, and labeling specific sequence motifs with fluorescent markers. These labeled DNA molecules are then linearized in nanochannels on a chip and imaged by an instrument.
The distinct patterns created by these fluorescent labels allow for the creation of high-resolution genome maps, sometimes covering entire chromosome arms. This approach differs significantly from traditional methods like karyotyping or standard sequencing, which often struggle to detect large-scale structural variations (SVs). OGM’s ability to visualize long DNA strands directly offers high sensitivity for SVs ranging from 500 base pairs to megabase lengths, including complex rearrangements, deletions, duplications, inversions, and translocations.
Recent Advancements and Discoveries
Recent developments highlight OGM’s expanding utility across various research areas. A study published in January 2025 showcased OGM’s application in preimplantation genetic testing, identifying complex chromosomal rearrangements in a male partner of a couple experiencing recurrent pregnancy loss that traditional methods missed. This allowed for the selection of viable embryos, leading to a successful pregnancy.
In May 2024, Bionano announced three studies demonstrating OGM’s utility in cell and gene therapy applications. These publications noted OGM’s ability to provide a comprehensive view of genome structure and assess genome integrity in therapeutic cell lines, including CAR-T cells and stem cells used in Alzheimer’s disease research. OGM confirmed on-target gene edits and detected genomic alterations that could impact differentiation.
An April 2024 study compared OGM to traditional cytogenetic techniques for analyzing sarcoma samples. OGM demonstrated high concordance with these methods while uniquely detecting alterations in known oncogenes and tumor suppressor genes, as well as complex aberrations like chromothripsis and chromoplexy.
Impact on Disease Research and Diagnosis
Bionano’s OGM technology is advancing the understanding and diagnosis of genetic diseases by providing a more complete view of genomic variations. For conditions like certain cancers and developmental disorders, OGM can identify previously missed genetic alterations, leading to better research insights and more accurate diagnoses. Its ability to detect all classes of structural variants, even in mosaic samples, makes it valuable for heterogeneous cancer samples.
The technology has shown promise in hematologic malignancies, where it can detect structural variants that influence disease progression and treatment response. In hereditary breast and ovarian cancer syndrome, OGM studies have indicated that a higher number of structural variations in tumors may correlate with poor prognosis and chemotherapy resistance, also identifying novel gene fusions. The insights gained from OGM are addressing the “missing heritability” in many rare genetic disorders.