World Cancer Day falls on February 4^th and is a global initiative raising awareness, improving education, and taking action towards the fight against cancer. This initiative is important to us at Bionano, since our optical genome mapping system Saphyr is used for cancer research all over the world and more and more clinical laboratories are developing clinical assays based on Saphyr. We are proud to contribute to the life-changing research our customers conduct! Recently, results from several exciting studies featuring Bionano data have been presented. Read on to find out more about these studies and watch presentations by their authors.

Brynn Levy, PhD, FACMG, Director of the Clinical Cytogenetics Laboratory at Columbia University,presented on the national multicenter evaluation of Saphyr in Acute Myeloid Leukemia, representing a consortium that includes the most important cancer research and treatment centers in the US. The previously reported and published study compared OGM results on 100 AML samples against karyotype, FISH and CMA. Dr. Levy concluded that OGM is concordant with all three traditional cytogenomics tools combined, and provides additional clinically useful information, missed by traditional methods, in 11% of the cases, and better characterizes the identified events in 40% of patients. Saphyr improves on genome analysis for AML patients by combining 3 assays in one, represents a significant time and cost saving, and provides a more objective, automated analysis that would remove subjective testing decisions at individual sites and could potentially remove disparity in healthcare. You can find the full recorded presentation here.

Dr. Jim Broach, Director of the Penn State Institute for Personalized Medicine presented on HPV-induced head and neck cancer, one of the few cancers on the rise in the US while most other cancers continue to decline. OGM allowed his team to reconstruct complicated genomic changes that next-generation sequencing hasn’t been able to identify. He concluded that Saphyr is a powerful tool to identify and characterize viral integration in tumors and that it can detect the genome instability associated with HPV integration. Watch his full presentation here.

Dr. Adrian Lee, Director of the Institute for Precision Medicine at the University of Pittsburgh presented on his use of OGM to study invasive lobular breast cancer, the sixth most common cancer in women. Using Saphyr, he was able to reconstruct extremely complex chromosome-wide rearrangements as well as clinically important single gene deletions. He stated that cancer genomics has long focused on small point mutations simply because the structural variants (SVs) were not accessible with next-generation sequencing tools, and he believes that OGM will allow for the discovery of therapeutic targets and diagnostic markers from SV data. He concluded that large structural variants are common in breast cancer and have important clinical value, that Saphyr can detect copy number changes as well as the standard single nucleotide polymorphism (SNP) arrays and that additionally it can detect all other SV types genome-wide as well. Click here to watch Dr. Lee’s presentation.

To conclude, we are featuring Dr. Ravindra Kolhe, Vice-Chairman of Pathology at the Medical College of Georgia at Augusta University described his progress in developing a laboratory developed test (LDT) for solid tumor with Saphyr. Preliminary results from his study on the first five glioblastoma samples showed 100% concordance between OGM and the current workflow for solid tumor testing in his laboratory, the Oncoscan SNP array platform combined with five locus specific tests using several different techniques. Dr. Kolhe concluded that Saphyr outperformed the Oncoscan array by detecting 100% of the variants found by the array platform and many more clinically actionable events it missed, and that Saphyr better characterized complex events. In addition to the higher performance, Saphyr has reduced hands-on time, faster turn-around time, and is cost effective compared to this current combination of methods. He believes that tests developed on Saphyr may help in making a more accurate prognosis and could measure therapy response. To watch his full presentation, click here.

Bionano optical genome mapping using Saphyr starts at $450 per genome. Uncover structural variations beyond what short and long-read sequencing can see, at variant allele fractions as low as 1%. To learn more about how Saphyr can be used for cancer research, click here.