Bionano Genomics Highlights Peer Reviewed Study Showing High Concordance Between Optical Genome Mapping (OGM) and Chromosomal Microarray Analysis
Bionano Genomics, a leader in optical genome mapping, has unveiled new findings from a peer-reviewed benchmarking study, highlighting the potential role of Optical Genome Mapping (OGM) in the molecular analysis of constitutional genetic disorders. The study compares OGM with the global standard in genetic disorder analysis, Chromosomal Microarray Analysis (CMA).
Constitutional genetic disorders, encompassing a range of conditions such as developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA), have long relied on CMA as the gold standard for molecular analysis. Additionally, researchers have often turned to Karyotyping (KT) and Fluorescence In Situ Hybridization (FISH) to confirm translocations or identify duplications when indicated by CMA results.
The study yielded several key findings, highlighting the potential for OGM as a tool in this domain. OGM exhibited 100% concordance with CMA in identifying pathogenic variants, successfully detecting all 46 pathogenic variants found in 36 samples. In the detection of clinically significant structural variants, OGM maintained a 98% concordance rate with CMA. Out of 61 clinically significant variants detected by OGM, 60 were in full agreement with CMA results. Only one variant was called a duplication by CMA but labeled an insertion by OGM. OGM’s superior resolution allowed for improved refinement of the genome structure in 22% of the cases (12 out of 55 samples) compared to CMA alone. OGM also identified translocations (fusions) in three cases where CMA results implied unbalanced derivative chromosomes.
Erik Holmlin, President and Chief Executive Officer of Bionano Genomics, emphasized the significance of these findings. He pointed out that while CMA, KT, and FISH have been indispensable in the realm of genetic disorder analysis, they are often cost-prohibitive and may require reflex testing for confirmation. OGM, on the other hand, offers a cost-effective workflow with straightforward interpretation and analysis. Holmlin noted that this benchmarking study holds great value for the research community as it substantiates OGM’s full concordance with CMA, hinting at its potential to eliminate the need for reflex testing with FISH and KT due to its enhanced resolution.
A study published in Myeloid Neoplasia in April 2023 highlighted the cost benefits of optical genome mapping noting that the current average cost of OGM per sample is around $500. This price point is relatively comparable to karyotyping alone, cheaper than FISH panels or CMA, and significantly cheaper than whole genome or whole exome sequencing.