Abstract

Genoptix plans to develop clinical diagnostics for selected hematologic oncology indications in the U.S. using Bionano Genomics’ Saphyr.
The alliance is intended to combine Genoptix’s oncology diagnostics and informatics services with Saphyr, Bionano’s high-speed, high-throughput genome–mapping solution. Development efforts will focus on indications where detection of large structural variations of the genome is required for accurate diagnosis.
“What I would say is that there are indications in the standard hematology workflow where the existing methods can be drastically improved with a digital solution like Bionano’s,” Bionano President and CEO Erik Holmlin, Ph.D., said.
Bionano aims to have its technology adopted by Genoptix this year. The timing of a commercial launch, Dr. Holmlin said, will depend on how quickly the companies address challenges ranging from technology to reimbursement.
Saphyr is the company’s third-generation optical mapping solution, designed to enable visualization of whole genomes with long-range reads from 100,000 bp to mega-base pair lengths. Saphyr is one of Bionano’s two systems for next-generation mapping; the other is called Irys.
“Irys can generate data that are of comparable quality to Saphyr, but Irys would not be able to accommodate the kind of commercial lab testing volumes that Saphyr can,” Dr. Holmlin said. “What makes Saphyr unique is its incredible increase in throughput and speed—roughly 10 times the throughput and one-tenth the time on Saphyr compared to Irys.”
According to Bionano, Saphyr offers much higher resolution than available through karyotyping or fluorescence in situ hybridization (FISH)—and assembly and discovery algorithms that offer greater sensitivity than sequencing-based technologies. Saphyr also offers 99% sensitivity for large homozygous insertions/deletions, 98% sensitivity for translocations, and 87% sensitivity for large heterozygous insertions/deletions.
Genoptix provides a comprehensive testing solutions in hematology and solid tumor molecular profiling, and is among the largest hematopathology centers in the U.S. The company focuses on diagnosing cancers and disorders in bone marrow, blood, and lymph nodes, and solid tumor work-ups using molecular testing.
Novartis acquired Genoptix in 2011 for $470 million, and sold the commercial lab segment in March to a management group led by Joseph M. Limber, in partnership with Ampersand Capital Partners and 1315 Capital. Novartis retained Genoptix’s BioPharma business as Navigate BioPharma Services, which provides specialized services in oncology trials.
Genoptix
