“Detected All Leukemia Genetic Abnormalities” … Electronic Mapping Matches Existing Tests 100%

An electronic DNA analysis technology for genomic mapping detected leukemia genetic abnormalities in line with existing standard tests.

According to Azure Life Sciences on the 17th (local time), Nabsys 2.0, a company developing electronic genomic mapping (EGM) technology, announced results from a proof-of-concept study led by researchers at Augusta University. The study was published on medRxiv, a preprint site for medical research.

The researchers evaluated the performance of Nabsys’ OhmX platform using bone marrow aspirate samples. They compared a total of five samples—four cases of acute myeloid leukemia (AML) and one case of chronic myeloid leukemia (CML)—with results from conventional karyotyping, fluorescence in situ hybridization (FISH) and optical genome mapping (OGM).

EGM detected all pathogenic abnormalities reported by standard cytogenetic testing and all genomic abnormalities identified by OGM. These included BCR::ABL1 rearrangements, trisomies of chromosomes 4 and 21, monosomy 7, deletions and complex structural abnormalities.

EGM also detected variants that are difficult to identify because of their small size, such as the KMT2A partial tandem duplication (KMT2A-PTD) associated with AML. In one complex AML sample, it additionally identified structural and copy number variants missed by karyotyping and FISH.

EGM characterized a chromosome 20 abnormality as an intrachromosomal fusion and confirmed loss of 20q material. It also detected an approximately 1.8Mb deletion at 7q22.1 that was not reported by karyotyping or FISH.

Ravindra Kolhe, a professor in the Department of Pathology at Augusta University, said, “In this initial proof-of-concept study of five samples, EGM detected all abnormalities identified by standard cytogenetic testing and OGM, and provided additional structural information in complex cases.” He said the findings “support further evaluation in larger and more diverse populations.”

Dr. Barrett Bready, founder and CEO of Nabsys, said, “It is significant that EGM showed complete agreement with existing cytogenetic and OGM methodologies.”

The OhmX platform uses Nabsys’ proprietary EGM technology to analyze ultralong DNA molecules electronically. Unlike existing genomic mapping systems that rely on lasers, cameras and complex optical equipment, it combines electronic detection, nanofluidics and computational biology to provide high-resolution information about genome structure.