Benzinga | Sep 29, 2021 08:22AM EDT

Bionano Genomics Announces The Publication Of Clinical Research Study To Date Evaluating Optical Genome Mapping For Facioscapulohumeral Muscular Dystrophy

Bionano Genomics, Inc. (BNGO) today announced the publication of the largest clinical research study to date evaluating optical genome mapping (OGM) for facioscapulohumeral muscular dystrophy (FSHD), which concluded that OGM can be performed more quickly, accurately, and reproducibly than the current gold standard method of Southern blot analysis. This study, now available online before print in The Journal of Molecular Diagnostics, describes how OGM can be adopted as an alternative to Southern blot analysis for the identification of chromosomal abnormalities associated with FSHD, a neuromuscular disorder resulting in progressive weakness and atrophy of muscles.

FSHD is typically caused by a contraction of a D4Z4 repeat array near the telomere of chromosome 4 (chr 4) at 4q35, which activates a dormant toxic gene, DUX4, to be overexpressed in skeletal muscle. Because of its complex genotype, FSHD can often be challenging to detect using next-generation sequencing (NGS) and Southern blot analysis, which can be slow, laborious and require radioactive labeling. In this robust study of 351 participants, the authors Stence et al., validated the use of OGM with Bionano's Saphyr(r) system to determine the size and haplotype of D4Z4 alleles to confirm a diagnosis of FSHD. The study's authors found that OGM had much higher sizing accuracy and was >99% concordant with Southern blot analysis.

"We are pleased to be using optical genome mapping for FSHD mutation analysis because it more reliably identifies the patient's mutation and simplifies the initial analysis for the laboratory," said Aaron D. Bossler, MD, PhD, FCAP, Clinical Professor and Director, Molecular Pathology Laboratory at University of Iowa Hospitals and Clinics. "The extensive validation that we conducted with optical genome mapping demonstrates the power of this new technology to decrease time to result, improve standardization, and help tease out complex cases."

OGM is well-suited for analyzing inherited genetic disorders like FSHD that require the measurement of long, intact DNA molecules for accurate sizing. The higher resolution of OGM relative to traditional techniques can enable improved detection and discrimination ability for clinically relevant variants, as was observed in this study.

"The study completed by Dr. Stence and team demonstrated the superior performance of OGM over traditional molecular genetic testing for FSHD," commented Erik Holmlin, PhD, CEO of Bionano Genomics. "As the largest OGM clinical study to date, the study demonstrated that using the Saphyr system to perform FSHD analysis resulted in a significantly faster turnaround time, as the OGM turnaround time was only 5 days as compared to Southern blot at 11 days. The ability to obtain accurate, reliable data more quickly allowed for the timely application of this information for the management of study participants. We believe that studies like this one could pave the way for broad adoption of OGM for a wide variety of applications in genetic disorders and cancer."

This publication is available at https://pubmed.ncbi.nlm.nih.gov/34384893/