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Whole-Genome Sequencing Is Accurate for Myeloid Cancers

WEDNESDAY, March 10, 2021 -- A streamlined whole-genome sequencing approach can provide rapid and accurate genomic profiling for acute myeloid leukemia (AML) or myelodysplastic syndromes, according to a study published in the March 11 issue of the New England Journal of Medicine.

Eric J. Duncavage, M.D., from the Washington University School of Medicine in St. Louis, and colleagues used a streamlined whole-genome sequencing approach to obtain genomic profiles for 263 patients with myeloid cancers, including 235 who had undergone cytogenetics analysis. The performance of whole-genome sequencing was analyzed by comparing results to findings from cytogenetic analysis and targeted sequencing.

The researchers found that all 40 recurrent translocations and 91 copy-number alterations that had been identified by cytogenetic analysis were detected by whole-genome sequencing. In addition, new clinically reportable genomic events were identified in 40 of 235 patients (17.0 percent). In prospective sequencing of samples obtained from 117 patients, new information was provided for 29 patients (24.8 percent), which changed the risk category for 19 patients (16.2 percent). There was a correlation seen for standard AML risk groups, defined by sequencing results instead of cytogenetic analysis, with clinical outcomes. Patients who had inconclusive results by cytogenetic analysis could be stratified by whole-genome sequencing into risk groups in which clinical outcomes were measurably different.

"Although our study focused on myeloid cancers, many of the advantages of whole-genome sequencing that we observed will directly apply to patients with other cancers," the authors write.

Illumina provided some of the reagents for prospective sequencing.

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