A new method for detecting cancer through a simple blood test is proving to be much more accurate and sensitive than earlier techniques, thanks to advancements in DNA sequencing and error correction.
Developed by researchers at Weill Cornell Medicine and the New York Genome Center, this breakthrough could eventually lead to routine blood tests for early cancer detection and monitoring after treatment.
The study, published on April 11 in Nature Methods, tested a new, low-cost sequencing technology from Ultima Genomics. This technology allows for “whole-genome sequencing,” meaning it looks at all the DNA in a blood sample rather than just focusing on known mutation hotspots.
This broader approach helps scientists find even the smallest traces of tumor DNA floating in the bloodstream—known as circulating tumor DNA (ctDNA).
In the past, whole-genome sequencing was too expensive to use regularly in clinical settings. But now, thanks to more affordable technology, it’s possible to analyze a much larger amount of DNA data, known as achieving greater “depth of coverage.” This means researchers can detect extremely small amounts of tumor DNA—sometimes at levels as low as one part per million.
Senior author Dr. Dan Landau, a cancer researcher and physician at Weill Cornell Medicine and the New York Genome Center, said this new method takes full advantage of cheaper sequencing to make what was once “wildly impractical” now realistic for everyday cancer care.
Catching cancer early using a blood test—called a “liquid biopsy”—has long been a goal of cancer research. Such tests would be far less invasive than traditional biopsies and could also help track cancer in patients after treatment, spotting relapse before symptoms appear.
However, detecting tumor DNA in the blood has been extremely challenging because these fragments are so rare and can easily be missed or mistaken for normal genetic material.
To improve reliability, the research team added an error-correction technique that uses the natural double-stranded structure of DNA. Since each strand of DNA has a matching pair, researchers can use this pairing to double-check for mistakes, drastically reducing false signals.
This step greatly increases the accuracy of cancer detection from blood samples, even without needing tumor samples from the patient for comparison.
Using their new method, the researchers successfully detected very low levels of cancer in patients with bladder cancer and melanoma. All blood samples used in the study were collected with patient consent.
The method was even able to track changes in cancer over time: when cancer got worse, ctDNA levels rose, and when cancer responded to treatment, those levels dropped.
Dr. Bishoy Faltas, a co-author of the study and cancer expert at Weill Cornell Medicine, explained that including known genetic “signatures” of specific cancers in the analysis helped improve the sensitivity of the test. This means the test could catch signs of cancer that might have gone unnoticed with older methods.
First author Dr. Alexandre Cheng noted that they could see clear patterns in ctDNA levels that matched how the patients were doing—whether their cancer was growing or shrinking. This suggests that the test could one day be used to monitor treatment response, helping doctors adjust therapy plans faster and more precisely.
Dr. Landau believes this study is a step toward a future where cancer can be detected and monitored using blood tests alone. It could make cancer diagnosis less invasive, more accurate, and more accessible, especially for patients needing long-term monitoring.
In summary, this study highlights how combining affordable whole-genome sequencing with smart error correction allows researchers to detect and track cancer with remarkable sensitivity and precision—using just a blood sample. While more work is needed before this becomes a common clinical tool, it marks a major leap forward in the fight against cancer.
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The research findings can be found in Nature Methods.
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