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Bionano Genomics Keeps Focus on Clinical Applications for Optical Genome Mapping

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BALTIMORE – Reporting encouraging first quarter financial results this week, genomic analysis company Bionano Genomics outlined five pillars of business strategies to continue driving the firm's optical genome mapping (OGM) technology into the clinical realm.

They include rolling out clinical studies, clearing the path for reimbursement, launching a new platform aimed at FDA approval, and enhancing software solutions, with the ultimate goal of establishing OGM as part of the standard of care for clinical diagnostics.

In a conference call to discuss the company's Q1 earnings, Bionano President and CEO Erik Holmlin said that the company's first strategic pillar is to expand OGM's commercial traction and validation for Saphyr, the company's current platform. To achieve that, Holmlin said Bionano is targeting roughly 2,500 labs, including academic medical centers and regional reference labs in cytogenetics.

Specifically, Holmlin said the company recently launched the Rare Undiagnosed Genetic Disease (RUGD) initiative at this year's American College of Medical Genetics and Genomics (ACMG) annual conference, which focuses on demonstrating OGM's utility in solving these types of diseases. In addition, he said the company plans to apply the technology to cancer, with the initial focus on blood disorders, leukemias, and lymphomas.

Another important component of validation is Bionano users developing and validating their own laboratory-developed tests, or LDTs, Holmlin said. The long-term goal is to obtain endorsements from health and medical organizations, such as the American Medical Association, the Centers for Medicare and Medicaid Services, and the World Health Organization, for clinical use of the technology, he said.

Bionano's second strategic pillar is to "delight our customers with robust products that are suitable for routine use at scale," he said. In addition to building a strong field support team, Bionano has a number of planned product updates, which include updates to the company's DNA isolation and labeling chemistries as well as integrating OGM with the company's Nx Clinical software.

Holmlin said the third pillar focuses on clearing the path for reimbursement of OGM-based tests. The company is currently "building a critical mass of OGM data" through clinical studies, which are designed to evaluate the platform's utility in genetic diseases, hematologic malignancies, cancer, and solid tumors.

By comparing OGM-based tests for these diseases with the current standard of care, the studies, which are underway or about to be rolled out, aim to generate clinical evidence to obtain third-party reimbursement by insurance companies and other agencies paying for healthcare. Holmlin highlighted the first readout from Bionano's clinical study in postnatal genetic diseases, which he said reported "strong data" and is anticipated to conclude this year. 

Perhaps most important is the fourth pillar of the company's business plan, working on major new products, which Bionano anticipates releasing over the course of this and next year.

The first of these products includes version 7.0 of the Nx Clinical software, which the company obtained through the acquisition of genomic software firm BioDiscovery last year. The new software version is designed to fully integrate structural variation, visualization, and data interpretation and reporting capabilities for next-generation sequencing and microarray data. "We believe that adding these capabilities will also enhance the value of OGM and can be a significant driver of future adoption of [the technology]," Holmlin said.

The company is also on track to unveil the next version of its OGM instrument in the near future, Holmlin said. Bionano completed a prototype of the new instrument last year and is focused on bringing a pre-commercial version of the platform online this year before commercially launching it in 2023.

In addition to higher throughput, Holmlin said the new system will be capable of having one to six instruments working in unison. It will also be part of an integrated workflow that includes automation of sample preparation and integration of the Nx Clinical software.

After the new instrument's commercial launch next year, Bionano plans to take it through the process of FDA clearance, Holmlin added. "Having FDA approval for the next instrument can advance our total available market and accelerate global adoption," he said.

Lastly, as Bionano's fifth strategic pillar, Holmlin said the company intends to promote its software. Currently, it offers Nx Clinical and Nexus Copy Number, two software products from BioDiscovery, which are estimated to have at least 10,000 installations worldwide, he said. The company also launched version 6.2 of the Nx Clinical software this quarter, which integrates genomic scar analysis for homologous recombination deficiency. This feature provides comprehensive, consistent, and automated analysis of biomarkers from next-generation sequencing and microarray data that can help clinical researchers predict therapeutic responses across multiple tumor types, Holmlin noted.

Moreover, by increasing the number of Nx Clinical and Nexus Copy Number subscribers, Holmlin said the company aims to build relationships with software customers, fostering OGM's adoption when they are ready to incorporate the technology into their labs.

Ultimately, Bionano is hopeful that OGM will eventually be incorporated as a standard-of-care testing method for cytogenetic diseases, Holmlin said. While genomic sequencing is increasingly recommended as a first-line analysis for sequence variants, he would like OGM to become recommended as a first-line analysis for structural variants. He added that when the two technologies are used in combination for diagnostics, they would become a "game-changer."

"There's a lot of work to be done between now and then … but that's the vision that we're driving toward," Holmlin said.

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