Phase Genomics Advances Breakthrough Cytogenomics with the Element AVITI System for Acute Myeloid Leukemia

Phase Genomics, Inc., a global innovator for industry-leading genomic solutions, today announced the presentation of new data from the proximity ligation sequencing-based OncoTerra cytogenomics platform on the leading-edge AVITI next-generation sequencing system. The platform offers a revolutionary leap toward rapid risk stratification for acute myeloid leukemia (AML).

Traditional cytogenetics has relied on a battery of assays for comprehensive evaluation, including karyotyping, FISH, and CMA, identifying large-scale structural alterations in chromosomes. Not only do these tests often fail to detect clinically relevant sub-microscopic variations, the cascade approach prolongs the time from sample collection to actionable insight.

Phase Genomics addresses these legacy challenges with the combination of its OncoTerra technology and Element’s AVITI system for next-generation sequencing, providing a high-resolution alternative for comprehensive, streamlined risk stratification in the research setting. OncoTerra on AVITI has demonstrated detection of the full range of chromosomal abnormalities observed in cancer from sample to cytogenomic insights.

“Our results speak to the real potential of OncoTerra on the AVITI sequencer. The next-generation cytogenomics all-in-one approach is primed to replace fragmented legacy tests with a single, rapid assay,” said Ivan Liachko, founder and CEO of Phase Genomics. “The ability to uncover previously undetected structural alterations in AML opens the exploration for new avenues for targeted therapies and personalized medicine. OncoTerra on AVITI represents a major stride toward accelerating cancer diagnoses and improving patient outcomes.”

The research leveraged OncoTerra for de novo risk assessment of 32 AML patient samples in the retrospective setting. Utilizing proximity ligation sequencing, OncoTerra delivered exceptional proficiency in detecting structural aberrations directly within AML samples, as well as seven variants of known clinical significance not detected by standard-of-care cytogenetic testing. These alterations included sub-microscopic inversions, terminal translocations, insertions, and copy-neutral loss of heterozygosity. The increased resolution and integrated analysis of the genome using OncoTerra yielded additional findings in eleven cases without previously detected chromosome abnormalities.

The study also highlighted the improved efficiency and read quality of the AVITI sequencer compared to other platforms. Benchmarking AVITI against Illumina NovaSeq platforms revealed a 20% enhancement in the fraction of effective read pairs, indicating greater sequencing efficiency and coverage.

Phase Genomics, the recent recipient of the Biotech Breakthrough Award for Metagenomics Innovation Of The Year, will highlight the power of OncoTerra for AML in poster G025, “Next-generation cytogenomics using proximity ligation technology on the AVITI genome sequencing platform” on November 18. Discover more about next-generation cytogenomics powered by proximity ligation technology in four presentations at AMP23, or connect with the Phase Genomics team at Booth 810.

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