Method for Solid Tumor Analysis with Saphyr Published by Penn State Institute for Personalized Medicine, Opening Largest Oncology Market to Optical Genome Mapping

Publication demonstrates that Saphyr can be powerful and easy to use for solid tumor analysis in cancer research and clinical testing

SAN DIEGO, Feb. 11, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), announced the publication of a method for using optical genome mapping (OGM) to identify structural variants (SVs) that drive cancer in a wide variety of solid tumor samples. The study, led by Dr. James Broach, Chair of the Department of Biochemistry and Molecular Biology and Director of the Penn State Institute for Personalized Medicine, used the Saphyr system for OGM to characterize structural variation in twenty solid tumor samples from cancer patients. The study showed that Bionano’s workflow can routinely isolate ultra-high molecular weight DNA from solid tumors, that its software is able to identify the cancer-specific variants in the tumor, even when they are present at low abundance in highly complex tumors, and that in every sample OGM found variants affecting important cancer genes. OGM with Saphyr has been previously validated in constitutional genetic diseases from blood samples and hematologic malignancies from blood and bone marrow aspirates. The current study demonstrates that OGM with Saphyr is also simple to use with solid tumors, the most common sample for cancer research and clinical testing.

Using Bionano’s SP Tissue and Tumor DNA Isolation Kit, Dr. Broach’s team successfully extracted ultra-high molecular weight DNA from a wide variety of human solid tumors including breast, colon, liver, brain, bladder, kidney, lung, ovary, prostate and thyroid cancer tissue. Every tumor sample carried at least one SV affecting important tumor-suppressor or oncogenes and most contained multiple variants. Several of the genes identified by OGM offer the opportunity for targeted therapies.

Jim Broach, PhD, commented: “Oncologists studying liquid tumors, such as leukemia, have had the ability to visualize somatic SVs across the entire tumor genome through karyotyping. This tool has afforded enormous benefits for prognosis and treatment selection, resulting in significant and steadily improving outcomes for such patients. Solid tumors cannot be analyzed by karyotyping, meaning that oncologists dealing with those tumors - breast, lung, prostate, brain, etc. - have not had that tool in their diagnostic arsenal. Our results with Bionano’s OGM technology demonstrate the feasibility not only of obtaining the same global view of somatic SVs across the entire solid tumor genome but also of doing so with a 10,000 times greater resolution than that afforded by karyotyping. We anticipate that, like the recent history with karyotyping and liquid tumors, OGM will yield unprecedented insights into solid tumor diagnosis and treatment with the potential for the same steady increase in improved patient outcomes.”