GeneDx to Develop Clinical Assays Based on Bionano’s Saphyr System

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Clinical genetic testing company GeneDx has announced it will adopt Bionano Genomics’ genome imaging system Saphyr to develop new assays that will eventually be used at GeneDx’s clinical laboratory in Gaithersburg, MD.

“Saphyr addresses the need for more and better patient testing for diagnosis and research in drug development. GeneDx’s adoption of the Saphyr System illustrates the need for advanced tools to test for conditions caused by large structural variants (SVs; >500bp) where short-range NGS isn’t ideal,” said Erik Holmlin, Ph.D., CEO of Bionano, in a press release. “We are excited that the Bionano technology will enable GeneDx to bring a new generation of assays to the clinic.”

For GeneDx, a wholly owned subsidiary of BioReference Laboratories founded in 2000, the use of Bionano’s optical mapping technology will allow it to complement its existing testing capabilities that have traditionally included rare disease diagnostics. As it has grown, GeneDx has expanded its capabilities to also include diagnostic testing for hereditary cancers, cardiac, mitochondrial, and neurological disorders, prenatal diagnostics, and targeted variant testing.

The Bionano technology will be used to complement GeneDx’s existing technologies to develop assays that will help finding answers for patients and families with muscular dystrophies, developmental, and reproductive disorders.

“GeneDx was one of the first commercial laboratories to offer Sanger sequencing for monogenic disorders and multigene panels and implement microarray for copy number events, as well as next-generation sequencing panels and to introduce exome sequencing,” said Sean Hofherr, Ph.D., FACMG, CSO and CLIA lab director of GeneDx. “The Saphyr technology is groundbreaking and will allow us to look at the ‘dark matter of the genome’—large repeats of DNA sequence, inversions, deletions, duplications and translocations.”

Bionano’s technology allows for the detection of copy number events (CNVs), FSHD repeat contractions, repeat expansions such as those in Myotonic Dystrophy, balanced and unbalanced translocations, and other complex rearrangements.

The deal with GeneDx builds on momentum Bianano has developed over the last year in proving the utility of Saphyr system. In October at the American Society of Human Genetics (ASHG) annual meeting in Houston, it announced that Saphyr had been used by Perkin Elmer and researchers at the University of Iowa for assay development by both organizations for Facioscapulohumeral Muscular Dystrophy (FSHD), which affects approximately 1 in 10,000 individuals and is one of the most prevalent forms of muscular dystrophy.

For this indication, PerkinElmer became the first company to develop and validate an assay based on the Saphyr system in a clinical setting under CLIA/CAP guidelines. And in June the company announced that molecular testing company Genoptix, which focuses on hematologic and solid cancers was adopting Saphyr to develop clinical diagnostics for hematologic indications.

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