Benzinga | May 3, 2021 08:23AM EDT

Bionano Genomics Announces Announces Georgia Esoteric And Molecular Laboratory At The Medical College Of Georgia Is Offering Diagnostic Services Based On Optical Genome Mapping With Saphyr System

Bionano Genomics, Inc. (NASDAQ:BNGO), announced today that the Georgia Esoteric and Molecular (GEM) Laboratory at the Medical College of Georgia (MCG) at Augusta University is now offering diagnostic services for constitutional genetic disorders through a laboratory-developed test (LDT) based on optical genome mapping (OGM) with the Saphyr(r) System. The LDT developed by Dr. Ravindra Kolhe and his team is designed for pediatric patients suspected to have a neurodevelopmental genetic disorder. Dr. Kolhe is developing additional OGM-based LDTs for prenatal genetic disorders and other indications.



Current medical guidelines recommend that patients with a suspected genetic condition, such as a pediatric neurodevelopmental disorder like autism spectrum disorder, first undergo analysis for structural variation with whole-genome analysis by chromosomal microarray (CMA) and are tested for Fragile X. Depending on the results of these first-line tests, further whole-genome analysis by Karyotyping (KT) may be indicated. This workflow is widely considered to be cumbersome, time-consuming, expensive, and inefficient. The OGM-based LDT developed and validated by MCG's GEM laboratory provides all the information sought in the first-line CMA and Fragile X testing recommended by medical guidelines, as well as the information that would be sought in a reflex to KT, in a single assay. A single assay for the detection of all types of structural variants (SVs), like this LDT, offers the potential to achieve a higher rate of diagnosis using a workflow that is faster, easier and lower cost.

Ravindra Kolhe, MD, PhD, FCAP., commented: "Since our initial evaluation of Saphyr, we have been impressed by the ability of OGM to identify all structural variant types, which could be associated with a genetic disorder. During the development of our LDT, we found that OGM scored a perfect 100% on all relevant performance metrics (specificity, sensitivity, accuracy, and precision) on tested SVs when compared to standard of care methods. The validation of our LDT for constitutional cytogenetics is only the start, as we are continuing the development of similar LDTs for additional clinical applications, making OGM-based LDTs a key part of our menu of diagnostic tests."

Erik Holmlin, PhD, CEO of Bionano Genomics commented: "Dr. Kolhe and his team have made incredible progress in the last year, making breakthrough research discoveries with OGM in the genomes of patients with severe COVID-19 disease. Despite the enormous workload that the COVID-19 pandemic brought to their diagnostic lab, they have continued their fast-paced development of Saphyr-based LDTs. We want to congratulate Dr. Kolhe and the entire GEM lab on successfully validating this LDT, making them the first academic CLIA lab in the United States to offer diagnostic whole genome analysis with assays they developed on Saphyr. Several laboratories in the U.S. such as PerkinElmer Genomics and the University of Iowa Hospitals and Clinics have already launched Saphyr-based LDTs targeting a specific clinical indication. The MCG's GEM lab is only the second clinical lab to provide an LDT based on whole-genome analysis with OGM in the U.S., following Praxis Genomics. We expect more U.S. laboratories to develop LDTs for several clinical applications in the future, continuing to define Saphyr as a key tool for next-generation cytogenomics in cancer and genetic disease."