Benzinga | Dec 28, 2020 09:42AM EST

Bionano Shares Up 40%; Co. Earlier Announced Its Customer, Praxis Genomics, Was Accredited By College Of American Pathologists

Bionano Genomics, Inc. (NASDAQ:BNGO), announced today that Praxis Genomics, LLC received accreditation from the College of American Pathologists (CAP), making it the first CAP-accredited, CLIA-certified diagnostic lab in the United States to offer a laboratory developed test (LDT) based on whole genome analysis with Saphyr. The LDT is designed for postnatal patients suspected of a constitutional genetic disorder. Praxis uses optical genome mapping (OGM) with Bionano's Saphyr System as an alternative to traditional methods of chromosomal microarray (CMA) and karyotyping (KT), as they seek to improve the rate of clinical diagnosis for patients with genetic disease. CMA and KT together typically diagnose 30-50% of patients tested. Recent studies have found that OGM with Saphyr is concordant with CMA and KT and also diagnoses a significant fraction (18-25%) of the patients who could not be diagnosed with traditional methods.



Medical guidelines recommend successive rounds of analysis with CMA, KT, repeat expansion testing, single gene or gene panel testing and whole exome sequencing until a pathogenic variant is identified or until the different techniques have been exhausted. At Praxis, this tiered approach is replaced by whole genome analysis using OGM with Saphyr for structural variants (SVs) and, when requested, whole genome analysis by next-generation sequencing (NGS) for single nucleotide variants (SNVs). This workflow eliminates costly and time-consuming steps like cell culture and tedious manual data analysis across multiple platforms and provides a streamlined approach for detection of all types of genomic aberrations designed to achieve a higher rate of diagnosis faster, easier, and at a lower economic cost to labs and payors.

Several diagnostic labs in the U.S. such as PerkinElmer Genomics and the University of Iowa Hospitals and Clinics have already launched Saphyr based LDTs targeting a specific clinical indication, a form of muscular dystrophy called FSHD1. While development of whole genome clinical tests with Saphyr have been in progress in Europe for various clinical applications including inherited genetic disorders and leukemias, the Praxis clinical service is the first to provide whole genome analysis in the U.S.

Erik Holmlin, PhD, CEO of Bionano Genomics commented: "We want to congratulate Praxis Genomics and its founder Dr. Peter L. Nagy on their CAP accreditation, making their Saphyr-based test the first whole genome analysis LDT in the U.S. in a CAP/CLIA setting. We believe this accreditation is a key step on the path to reimbursement of Saphyr-based LDTs by third party payors. While Praxis is first, we expect several other U.S. laboratories to offer whole genome LDTs for various clinical applications in the future, establishing Saphyr as a key tool for next generation cytogenomics. By adding whole genome sequencing, Praxis intends to demonstrate that Saphyr and NGS complement each other to provide answers to patients and families affected with genetic disorders. As more Saphyr-based tests enter the LDT stage worldwide, we believe it is possible to create a paradigm shift for cytogenomic applications in cancer and genetic disease that have the potential to improve patient outcomes."

Dr. Peter L. Nagy, Founder and CEO of Praxis Genomics will present case studies of diagnoses made with OGM at Bionano's Next-Generation Cytogenomics Symposium on January 11, 2021. Register for the event here: https://bit.ly/3fPULzs