Uncovering the Full Variant Continuum with Pioneering Solutions from Bionano – Inside Precision Medicine

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Erik Holmlin is a dynamic leader with more than two decades of experience developing innovative solutions and companies in the life sciences and healthcare industries.

IPM: What is Bionano Genomics mission in advancing precision medicine?

Our mission is to transform the way the world sees the genome. In precision medicine, transformation depends on providing researchers better tools to identify genomic variation that matters in human health and disease. If we want to understand the genomic underpinnings of cancer and genetic disease more fully, we have to look across the variant continuum from single nucleotide variants (SNVs) and small indels to larger structural variants (SVs). While next-gen sequencing (NGS) technologies do an excellent job of interrogating the genome for small variants, they have real limitations when it comes to SVs. In addition, many traditional techniques for detecting SVs, like karyotyping and FISH, have shortcomings. We see a huge opportunity for optical genome mapping (OGM) to address these limitations, and for our software platforms to pull together multiple data types into a single view. With these solutions, were equipping labs with new ways to advance basic, translational, and clinical research.

IPM: How has Bionano Genomics evolved to work toward accomplishing that mission?

We began as a traditional life sciences instrument company, with the development of the instrument and consumables for OGM. However, we quickly identified the need within the market to make sense of multiple data types, such as NGS data. We saw an opportunity to address this need through data visualization, which prompted our acquisition of BioDiscovery. This enabled us to leverage NxClinical software, widely considered to be one of the most powerful tools for visualization, interpretation, and reporting of genomic variants from NGS, microarray, and soon, OGM data.

IPM: How can a better understanding of OGM tools and the structural variations they can identify help advance precision medicine?

A growing body of evidence supports our belief that OGM can play a primary role in detecting and understanding SVs present in various forms of disease.

Many studies, including a recent one published in Leukemia by MD Anderson Cancer Center, have revealed OGMs ability to find more clinically relevant pathogenic variants compared to traditional cytogenetic techniques. This study shows that OGM can have higher resolution, be faster, and reveal more variants than traditional methods, attributes that may 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.

IPM: What future technology developments can we expect from Bionano Genomics, and what does that roadmap look like?

Bionano maintains an active product development pipeline to grow our customer base in new markets. Were currently working on new DNA isolation and labeling protocols, and weve recently announced a collaborative development with Hamilton to provide the worlds first automation solution for Ultra High Molecular Weight extraction used in OGM.

One of our most ambitious development projects includes a new genome-mapping instrument which will provide substantially higher sample throughput than our current instrument, the Saphyr system. Understanding the sample volumes processed by large reference laboratories and CROs, were developing this new instrument with increased OGM throughput capabilities to meet the needs of these users.

A second development project will strengthen our software portfolio with a new version of the NxClinical software. This new software will enable OGM SV visualization alongside other data types from most sequencing and array platforms. These consolidated analysis capabilities will let labs visualize all their existing data sourcesarray, NGS (both short- and long-read sequencing), and soon, OGMall from within one software platform. We believe the cumulative impact this consolidation will have on precision medicine research could be a game-changer.

Overall, were driving toward delivering an end-to-end workflow that begins with data collection from the OGM instruments all the way to fully featured variant visualization, interpretation, and reporting software.

For additional information: http://www.bionanogenomics.com

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Uncovering the Full Variant Continuum with Pioneering Solutions from Bionano - Inside Precision Medicine