A groundbreaking new study by Weill Cornell Medicine and New York Genome Center researchers has introduced a novel method for detecting cancer from blood samples with unprecedented sensitivity and accuracy. This innovative approach, based on whole-genome sequencing of DNA, holds great promise for monitoring disease progression in patients post-treatment and could revolutionize early cancer detection through routine blood tests.
Published in the prestigious journal Nature Methods, the study evaluated the performance of a new commercial sequencing platform developed by Ultima Genomics. The platform’s affordability allowed for high-depth coverage during sequencing, enabling the detection of minute concentrations of circulating tumor DNA. By incorporating an error-correcting technique, the researchers significantly enhanced the precision of the method.
Dr. Dan Landau, the senior author of the study and a renowned expert in precision medicine at Weill Cornell Medicine, highlighted the transformative potential of low-cost DNA sequencing in advancing cancer detection methods. The team’s long-standing efforts to overcome the challenges of identifying cancer-related mutations in blood samples culminated in this groundbreaking study.
The researchers demonstrated the method’s efficacy by detecting tumor DNA in patient blood samples at concentrations as low as parts per million. Leveraging the redundancy inherent in two-stranded DNA, they devised an error-correction mechanism that minimized inaccuracies, making the technique feasible for use without prior access to tumor samples.
Collaborating with experts in the field, the team successfully applied the high-sensitivity, low-error approach to detect and assess minimal cancer levels in patients with bladder cancer and melanoma solely from blood samples. Dr. Bishoy M. Faltas, a key collaborator on the project, emphasized the significance of incorporating distinct mutational signatures into the analysis to enhance the method’s sensitivity.
The study’s first author, Dr. Alexandre Cheng, highlighted the method’s potential for monitoring cancer progression by tracking changes in circulating tumor DNA levels post-treatment. The ability to detect and monitor cancer from blood tests alone represents a significant advancement in personalized cancer care and could have far-reaching implications for patient outcomes.
In conclusion, the study’s findings pave the way for a future where routine blood tests could serve as a reliable tool for early cancer detection and disease monitoring. With further research and validation, this innovative approach could revolutionize cancer care and improve patient outcomes significantly.
For more information, the study titled “Error-corrected flow-based sequencing at whole-genome scale and its application to circulating cell-free DNA profiling” can be accessed in Nature Methods (DOI: 10.1038/s41592-025-02648-9).
Provided by Weill Cornell Medical College.
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New strategy may enable cancer monitoring from blood tests alone (2025, April 12)
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