Benzinga | Apr 6, 2021 08:04AM EDT

Bionano Genomics Says Publication Outlines Potential For Optical Genome Mapping With Co's Saphyr System To Be Foundation Of A New Workflow In Prenatal Genetic Testing

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.

Global medical associations including ACOG, ISUOG, ACMG recommend prenatal testing for the detection and prevention of genetic disorders using cytogenetic methods such as karyotype analysis, fluorescent in situ hybridization (FISH), and chromosomal microarray (CMA). Additionally, multiple molecular methods are used to identify repeat expansion and contraction disorders in routine clinical laboratories.

In this study OGM with Saphyr was used to detect a variety of genetic abnormalities in amniotic fluid and chorionic villus samples collected during pregnancy. The paper shows examples of how different OGM assays identified cases of trisomy 21 or Down syndrome, sex chromosome aneuploidy where additional copies of the X chromosome were present, DiGeorge syndrome, the most common microdeletion syndrome affecting about 1 in 4,000 births, a repeat expansion causing fragile X syndrome, and an unbalanced translocation in the fetus caused by a balanced translocation in the parent. The site-to-site reproducibility of the OGM prenatal workflow was also evaluated by analyzing 5 samples in replicates at two different sites, on different instruments, and with different operators, showing concordance across both sites.

The publication is available at https://www.mdpi.com/2073-4425/12/3/398/htm