Publication Outlines Potential for Optical Genome Mapping with Bionano’s Saphyr System to be the Foundation of a New Workflow in Prenatal Genetic Testing

SAN DIEGO, April 06, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today a publication in the peer-reviewed journal Genes describing an analysis by optical genome mapping (OGM) of representative examples of common genetic syndromes that are the basis of prenatal genetic testing recommended by medical associations in the US and around the world. The paper’s authors have outlined a potential framework for OGM to be developed as the basis of a new standard of care in prenatal genetic analysis because of its ability to identify all types of structural variants (SVs).

“What we are seeing now, on a consistent basis, is the demonstration of utility for OGM in a variety of applications. Development and validation of OGM assays for pre-natal analysis is an area where the field could transform itself and help physicians and their patients,” commented Erik Holmlin, PhD, CEO of Bionano Genomics. “Over the last year alone, we have seen a great number of publications and presentations that demonstrate Saphyr’s prowess in cytogenetic analysis of genetic diseases, leukemias and solid tumors. While there remains significant work for these proof-of-concept studies to translate into broader, mainstream adoption, we believe the momentum is strong.”

The publication is presented as a commentary in the special issue of Genes titled "Advances in Prenatal Genetic Screening and Diagnosis Technologies", which addresses the increasingly complex decisions physicians and couples face about the quality and quantity of genetic information they wish to access as the technology for genetic testing advances. As non-invasive prenatal screening tests (NIPT) become the standard screening tool for pregnancies around the world, OGM could provide a high-throughput, comprehensive and high-resolution follow up genome analysis in case of a positive NIPT screen or for high-risk pregnancies following an abnormal ultrasound. The study authors led by Bionano chief medical officer Dr. Alka Chaubey and Augusta University professor Dr. Ravindra Kolhe state that development and validation of assays based on OGM would enable clinicians to accurately detect all types of genetic disorders with a single technology, resulting in a workflow that is both cost-effective and has a fast turn-around time.