Cancer detection: Low-cost genome sequencing boosts detection accuracy from tiny blood samples  

A new method using whole-genome sequencing has significantly raised the bar for cancer detection through blood tests. Developed by Weill Cornell Medicine and the New York Genome Center, the approach is not only more accurate than previous techniques but also promises a path toward routine screening. By correcting sequencing errors and harnessing low-cost platforms, the study points to a future where monitoring disease post-treatment could be as simple as a blood draw.

Published in Nature Methods, the study evaluated the capabilities of a new commercial sequencing platform by Ultima Genomics. The platform, known for its affordability, allows researchers to achieve deep sequencing coverage—critical for spotting minute traces of tumor DNA in blood. Incorporating an error-correction method further sharpened the accuracy of this cancer detection technique.

"We're now entering an era of low-cost DNA sequencing, and in this study, we took advantage of that to apply whole-genome sequencing techniques that in the past would have been considered wildly impractical,” senior author Dr Dan Landau, the Bibliowicz Family Professor of Medicine at Weill Cornell Medicine and core faculty member at the New York Genome Center, told MedicalXpress.

Liquid biopsy, a blood-based approach to detect and monitor cancer, is a rapidly evolving field. But the challenge remains: detecting cancer's genetic footprint in minuscule amounts of circulating DNA. Landau’s lab has spent nearly a decade refining whole-genome methods to push past these limitations—moving beyond targeted sequencing to capture the broader mutational landscape.

"This collaboration allowed us to analyze circulating tumour DNA from patients with bladder cancer and identify the distinct mutational signatures that my lab has extensively studied," Dr Bishoy M. Faltas, chief research officer at the Englander Institute for Precision Medicine, told MedicalXpress.

In collaboration with other research groups, the team applied the method to blood samples from patients with bladder cancer and melanoma. The results were telling: even at low cancer levels, the technology could detect and assess tumor presence.

"We were able, for example, to see increases in circulating tumor DNA levels after treatment in patients with cancers that progressed or recurred, and declines in those levels in patients whose cancers had full or partial responses," first author Dr. Alexandre Cheng, a postdoctoral researcher in the Landau lab, told MedicalXpress.