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

By LabMedica International staff writers
Posted on 07 Jun 2022

Image: The OverC multi-cancer detection blood test kit has received CE mark (Photo courtesy of Unsplash)

Image: The OverC multi-cancer detection blood test kit has received CE mark (Photo courtesy of Unsplash)

Early detection and treatment are important components of comprehensive cancer control. 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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