Medicare has approved Washington University's ChromoSeq WGS test in 2023. The approval gives positive precedent for reimbursement of whole-genome sequencing (WGS) tests that could benefit companies like Illumina (NASDAQ:ILMN) that recently showing high sensitivity in detecting critical mutations with its new WGS technology.

Illumina just demonstrated its WGS effectiveness in blood cancer diagnostics. The research showed that Illumina's WGS workflow achieving 100% sensitivity in finding rare mutations in Acute Myeloid Leukimia (AML). The results give a five-day turnaround time with 95% detection rate at 5% variant allele frequency with 140x coverage. This is a significant improvement in diagnostic methods with less tests and high detection capabilities.

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As of 2024, there are more than 187,470 Americans diagnosed with blood cancer and a single WGS workflow from Illumina offers cheaper price for patients. Beforehand, patients need to do multiple conventional tests for a clear diagnosis of blood cancer, Illumina's WGS technology simplifies the tests into one workflow only.

However, for now the technology is for research use only as the market adoption faces barriers including infrastructure requirements and conventional diagnostic methods that are already familiar among healthcare providers.

If Illumina can address the barriers, it is possible that Illumina can turn its financial position around to be profitable again after deep losses since 2022.

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