Innovative Blood Test Enables Early Detection of Multiple Cancers via Cell-Free DNA

A groundbreaking blood test developed by researchers from Geneseeq and Chinese medical institutions offers a promising noninvasive method for detecting various cancers at early stages. Utilizing advanced whole-genome sequencing and machine learning, this multi-cancer early detection (MCED) test analyzes cell-free DNA (cfDNA) fragments circulating in the bloodstream, which tumors shed into the blood.

In validation studies, the test demonstrated high accuracy, with an 87.4% sensitivity and 97.8% specificity in identifying cancer among a diverse cohort. It successfully predicted the tissue of origin in approximately 83% of cases, supporting its potential utility in guiding clinical decisions.

The study, published in Nature Medicine, involved a retrospective training phase with thousands of cancer patients and controls, followed by validation using independent cohorts. Ultimately, a prospective analysis enrolled nearly 3,700 asymptomatic individuals in China, where 43 cancer cases were identified within a year.

The test performed particularly well for cancers often diagnosed late, such as liver, ovarian, pancreatic, and lung cancers, with sensitivities ranging from 76.9% to 100%. Its ability to detect cancers early and accurately determine their origin could significantly improve early intervention and treatment outcomes.

By leveraging features like cfDNA fragment size, methylation patterns, copy number variations, and nucleosome positioning, the machine learning models achieved robust performance, even for early-stage tumors. The researchers suggest that this MCED test has the potential to transform cancer detection, enabling timely diagnosis and personalized treatment strategies.

This innovative approach represents a significant advancement in cancer screening, especially for cancers lacking effective routine screening methods. Further clinical trials and regulatory evaluations are underway to facilitate its integration into routine healthcare.

Source: https://medicalxpress.com/news/2025-06-blood-multiple-cancer-cell-free.html