Benzinga | Apr 21, 2021 08:07AM EDT

Bionano Genomics Says Sites Within UK's National Health System Have Adopted Co's Saphyr System For Optical Genome Mapping

Bionano Genomics, Inc. (NASDAQ:BNGO) announced the adoption of its Saphyr system for optical genome mapping (OGM) by two large laboratories belonging to the National Health System (NHS) of the United Kingdom. King's College Hospital in London and the NHS Regional Genetics Laboratory in Belfast City Hospital have adopted Saphyr systems through the company's reagent rental program, which entails a commitment to purchase consumables over time in connection with the placement of a system. Both sites are using Saphyr to characterize the genomes of patients with heme malignancies. The site in Belfast will also evaluate Saphyr for the detection of structural variants (SVs) in patients with developmental delay, infertility, rare disease, and other genetic diseases as well.



Dr. Anwar Alhaq, Lead Clinical Scientist and Deputy Clinical Director for NHS Haematology & Pathology at King's College Hospital, London said: "Timely identification of genomic structural variants is vital for providing diagnostic, prognostic and treatment decisions for hematological malignancies. The South East Haematological Malignancy Diagnostic Service based at King's College Hospital currently uses a combination of techniques such as karyotyping, fluorescence in situ hybridization (FISH) and SNP arrays to provide a comprehensive analysis of all cytogenetic aberrations. These techniques are expensive, labor-intensive and time consuming and require a diverse and skilled workforce."

Dr. Alhaq added "A number of other pilot studies have already demonstrated the clinical validity of OGM for identifying SVs in both acquired and constitutional abnormalities. We are undertaking a pilot validation study of the Saphyr system to introduce a single, automated cytogenetic workflow providing high-resolution analysis of the genome in a timely manner, ultimately to benefit patient outcomes. We hope that this will ultimately replace the need for the wide range of cytogenetic methods currently used in diagnostic laboratories and will lead to a quicker turnaround time with better defined SV data."

Dr. Shirley Heggarty, Consultant Clinical Scientist at the NHS Regional Genetics Laboratory in Belfast City Hospital said: "As part of a modernization program of the Northern Ireland Regional Genetics Laboratory (NIRGL) we were looking to refresh and update certain of our cytogenetic facilities. Currently NIRGL relies on traditional cytogenetic techniques such as karyotyping, FISH and SNP array to identify the chromosomal changes in patients. When evaluating our options for the future, what was attractive about the Saphyr system is that it has the potential to replace several different clinical tests in one assay, avoiding the need for us invest in additional multiple cytogenetic instruments, savings us time and streamlining our workflow."

Dr. Heggarty added "The pilot study will be used to assess the clinical utility of OGM in the identification of SVs observed in patients with constitutional and acquired chromosomal abnormalities, including but not limited to developmental delay, infertility, rare disease, leukemia and lymphoma patients."

"What we are seeing with recent adoption within the UK NHS and other sites is a validation of the change in our sales model that we adopted in the first half of 2020. Our focus is on accelerating the process for researchers to implement OGM with Saphyr to shorten the time it takes them to generate data. A faster implementation brings revenue sooner compared to a traditional capital sales cycle, and earlier access to Saphyr data may raise awareness of that data sooner," commented Erik Holmlin, PhD, CEO of Bionano Genomics. "King's College Hospital London is one of the largest NHS testing centers for heme malignancies and serves a diverse patient population. Meanwhile, NIRGL is the only NHS genetic testing center in Northern Ireland, providing services to that entire population. We are thrilled that these NHS centers have chosen to invest in OGM with the Saphyr system as they begin developing and validating assays on the platform along a path to modernizing their workflows. We believe their success can spark potential adoption by many other NHS testing labs across the UK."