Research tests cost-effective approach to early-cancer detection from cell-freeDNA in blood samples NatureComms
Early detection remains key to successfully treating many cancers, and early detection via cell-free DNA circulating in the bloodstream—the so-called"liquid biopsy"—has become a research focal point. But using this method to detect cancer at its early stages has been challenging due to low tumor concentrations in DNA blood fragments and the genetic diversity of cancer.
Cell-free DNA methylation has been shown to be one of the most promising biomarkers for early cancer detection. However, the signatures of cfDNA aberrations from diverse cancer types, subtypes, stages and etiologies are heterogeneous, leading to challenges in identifying methylation markers suitable for early detection. This is especially of concern that the currently available sample sizes are small compared to the diversity of diseases and the patient population .
For this study, Zhou and collaborators put their novel approach to the test to see if it could accurately detect four commonly diagnosed cancers—colon, liver, lung andfrom 408 study participants and applied their methylome-based blood test, which can identify a broad range of markers for different cancer types and possible causes. Of those, 217 were cancer patients and 191 were cancer-free control subjects.
Their model was 80.7% accurate in detecting cancers across all stages and about 74.5% accurate in detecting early-stage cancers—those at stages I or II—with just under 98% specificity. There was only one incorrectly classified normal sample .
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