- The stock price of BioNano Genomics Inc (BNGO) increased by over 9% during intraday trading today. This is why.
The stock price of BioNano Genomics Inc (BNGO) increased by over 9% during intraday trading today. Investors are responding to Bionano Genomics announcing the publication of the first study to evaluate the utility of optical genome mapping (OGM) for myelodysplastic syndrome (MDS) prognostication.
In the peer-reviewed study, published in Leukemia, researchers from The University of Texas MD Anderson Cancer Center noted that when OGM was used instead of karyotyping, 17 to 21% of study subjects had different prognostic risk scores and in 13% of study subjects additional pathogenic variants were revealed. Plus The OGM results were also compared to results of a next-generation sequencing (NGS) panel used for molecular pathology. The comparison to NGS showed that the utility of OGM above and beyond that of karyotyping is not provided by NGS.
This study analyzed 101 consecutive and newly diagnosed MDS patients from a single center within MD Anderson. And multiple analysis methods, including OGM, karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA) and an 81-gene NGS panel were used to detect pathogenic structural variants (SVs) and single nucleotide variants (SNVs) in the samples.
These findings showed that OGM detected nearly twice the number of pathogenic SVs compared to traditional cytogenetic methods. And when the OGM results were used to calculate prognostic risk scores by the comprehensive cytogenetic scoring system (CCSS), the risk scores were different for 21% of study subjects and when the international prognostic scoring system (IPSS) was used, the risk scores were different for 17% of study subjects. The prognostic risk is a component of disease management protocols outlined in treatment guidelines followed by oncologists on a global basis. Proper risk classification can help improve outcomes, including overall survival.
Along with driving the reclassification of prognostic risk in up to 21% of subjects, the results showed that OGM detected pathogenic variants that traditional methods missed in 13% of subjects. And the researchers suggest that these previously undetected SVs could provide additional information that oncologists could use to select therapies and to monitor therapeutic response and disease progression. Taken together, the use of OGM resulted in a different cytogenetic analysis for 28% of subjects in the study.
The authors also evaluated the utility of combining OGM with NGS on the same MDS subjects and found that the combination of OGM and NGS resulted in the detection of at least one clinically significant clonal abnormality in 97 of 101 cases. And in one subject, the researchers reported detecting a pathogenic SV that otherwise had no clinically relevant variants detected by NGS or traditional methods.
KEY QUOTES:
“The results of this study demonstrate that we are grossly under-evaluating the degree of genomic aberrations. Most patients with high-risk MDS are not responsive to available therapies, pointing to the urgent need for new therapeutic alternatives that will improve the clinical outcomes of these patients and better tools to help in that pursuit. This study underscores the potential for OGM to become a single-platform cytogenetic tool for structural variant profiling in indications such as MDS, and shows that when OGM and NGS are combined, the success rate of finding pathogenic variants is higher than with any traditional methods in use today.”
— Corresponding author Dr. Rashmi Kanagal-Shamanna (from MD Anderson)
“We are thrilled to see the remarkable results from the study, which we believe illustrate the clinical utility of OGM in MDS. This study shows that OGM can have higher resolution, be faster and reveal far more variants than traditional methods alone, attributes that could impact people’s lives and play a role in disease management. It also shows that combining OGM with NGS can offer a workflow that reveals SVs and SNVs in a way that the standard combination of tools in use today cannot.”
— Erik Holmlin, PhD, president and chief executive officer of Bionano Genomics
