Blood Test Combines Epigenetics, NGS and Machine Learning for Multi-Cancer Early Detection

Cancer, when identified early, is more likely to respond to effective treatment, resulting in a greater probability of surviving as well as less expensive treatment. Now, a qualitative next-generation sequencing (NGS)-based in vitro diagnostic device that detects DNA methylation markers using cfDNA isolated from human peripheral whole blood enables earlier detection and localization of multiple cancer types. The assay includes a semi-automated workflow including cfDNA extraction and library preparation; a sequencing instrument for massively parallel sequencing (MPS) of the pooled libraries; as well as an analysis software for data analysis.

The OverC multi-cancer detection blood test is based on Burning Rock Biotech Limited’s (Shanghai, China) self-developed multi-cancer early detection technology ELSA-seq. The technology combines epigenetics, NGS, and machine learning to achieve multi-cancer early detection. ELSA-seq has successfully accomplished the efficient capture of trace amounts of circulating tumor DNA methylation signals in blood. ELSA-seq has been published in a number of high-impact academic journals. These results demonstrate that ELSA-seq is a highly sensitive test for detection of the trace amounts of tumor-derived methylation signals in plasma samples from multiple cancer types. Burning Rock has received CE marking for its OverC multi-cancer detection blood test which is intended for earlier detection and localization of multiple cancer types in adults of either sex, aged 40-75 years old.

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