In a paper recently published in MedRxiv, a consortium of cytogenetic experts led by Dr. Brynn Levy, Professor of pathology and cell biology at Columbia University and Medical Director of the Clinical Cytogenetics Laboratory at New York Presbyterian Hospital recommended that optical genome mapping (OGM) using Bionano’s Saphyr System be considered as a first-line test for detection and identification of clinically relevant structural variants and copy number variants in leukemias.

The paper by cytogenetics experts from the nation’s top clinical and cancer centers describes detection and identification of structural variants and copy number variants in 100 patients with acute myeloid leukemia (AML). This study is the largest to-date in leukemia for Bionano and the first published study from the United States comparing Bionano’s OGM to karyotyping, the current standard of care in leukemia testing.

The authors, who are cytogenetic leaders from prestigious institutions including Augusta University, Columbia University, Fred Hutchinson Cancer Center, Legacy Health, Mayo Clinic, MD Anderson, PathGroup and Penn State University, reported that Saphyr detected 100% of all clinically relevant SVs and CNVs previously detected by standard of care methods and that Saphyr provided additional actionable data in 24% of the cases.

Karyotyping, which provides a whole genome analysis of single cells, has been the standard of care for AML patients for decades. This study demonstrated several advantages of OGM over karyotyping with no obvious deficiencies in performance. The authors reported that the performance of OGM surpassed even the performance of karyotyping combined with other tests, such as fluorescence in situ hybridization (FISH) and chromosomal microarray, in a more refined and simplified workflow that was more cost effective than current methods.

You can find the full pre-print publication here. Read the recent press release on the paper here.