Cell-Free DNA Methylome Assay Demonstrates Strong Performance

TUESDAY, April 14, 2026 (HealthDay News) -- A novel low-cost assay that sequences cell-free DNA (cfDNA) methylome in blood demonstrates strong performance across a range of clinical applications, according to a study published online April 6 in the Proceedings of the National Academy of Sciences.Noting that deep sequencing required for sensitive detection of methylation abnormalities remains prohibitively expensive, Weihua Zeng, from the David Geffen School of Medicine at the University of California Los Angeles, and colleagues developed a cost-effective approach for cfDNA methylome sequencing, MethylScan.The researchers found broad clinical utility of the assay in a cohort of 1,061 individuals across diverse applications, including detection of multiple cancers in a general population, liver cancer surveillance in high-risk individuals, classification of liver disease, identification of organ abnormalities, and race prediction from cfDNA. MethylScan achieved an area under the receiver operating characteristic curve (AUROC) of 0.938 for multicancer detection (liver, lung, ovarian, and stomach cancers), with 63.3 percent sensitivity at 98.0 percent specificity for all cancer stages. The AUROC was 0.916 for early-stage cancers with 55.3 percent sensitivity at the same specificity. MethylScan achieved an AUROC of 0.927 in liver cancer surveillance, with sensitivity of 79.6 percent at 90.4 percent specificity. Strong performance was also demonstrated in additional diagnostic tasks."This study demonstrates that blood-based methylation profiling can deliver clinically meaningful information across multiple diseases," senior author Xianghong Jasmine Zhou, Ph.D., also from the David Geffen School of Medicine, said in a statement. "It's an exciting advancement that brings us closer to realizing the dream of a single assay for universal disease detection."Several authors disclosed ties to EarlyDiagnostics, including being inventors on a patent application submitted by EarlyDiagnostics. Abstract/Full Text.Sign up for our weekly HealthDay newsletter

Cell-Free DNA Methylome Assay Demonstrates Strong Performance

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