Bionano Genomics’ OGM Technology Shows High Performance and Potential Impact in Prenatal Analysis\n\nBionano Genomics, a leading provider of genome analysis solutions, has recently published a study demonstrating the potential of its optical genome mapping (OGM) technology in prenatal analysis. The study, conducted by researchers from Nanjing Women and Children’s Healthcare Hospital in China, compared OGM to traditional methods and highlighted its high analytical concordance and ability to detect novel pathogenic structural variants (SVs).\n\nThe study, which included 200 unique prospective prenatal samples, reported that OGM demonstrated a 97.4% sensitivity, 100% specificity, 100% positive predictive value (PPV) and 99.4% negative predictive value (NPV) for detecting SVs reported with traditional methods. OGM also revealed the location and orientation of duplication segments, refined breakpoints of SVs and identified specific repeat contraction disorders that were not detected by other methods.\n\nIn addition, OGM identified several additional SVs not detected by traditional methods and provided more precise information about the effect of copy number variants (CNVs). OGM also detected 8 D4Z4 repeat contractions on the permissive 4qA haplotype that may indicate facioscapulohumeral muscular dystrophy type 1 (FSHD1).\n\nThe study authors concluded that OGM has the potential to serve as a first-tier cytogenetic method for prenatal analysis due to its ability to identify the majority of pathogenic SVs in a single assay.\n\n“The use of OGM for the analysis of prenatal samples is an area where we believe our workflow can have tremendous global impact. We believe this study marks a milestone in the Chinese prenatal research market as it includes the largest sample size to date for an independent prenatal study using OGM,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano.\n\nBionano Genomics is dedicated to transforming the way the world sees the genome through its OGM solutions, diagnostic services, and software. The company offers OGM solutions for applications across basic, translational, and clinical research. Additionally, through its Lineagen, incorporated dba Bionano Laboratories business, the company provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder (ASD) and other neurodevelopmental disabilities.