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A brand new, error-corrected methodology for detecting most cancers from blood samples is far more delicate and correct than prior strategies and could also be helpful for monitoring illness standing in sufferers following therapy, in response to a examine by Weill Cornell Medication and New York Genome Middle investigators. The tactic, based mostly on whole-genome sequencing of DNA, additionally represents an necessary step towards the purpose of routine blood test-based screening for early most cancers detection.
Within the examine, printed Apr. 11 in Nature Strategies, the researchers benchmarked the cancer-detection efficiency of a brand new industrial sequencing platform from Ultima Genomics. They demonstrated {that a} low-cost platform resembling this one allows a really excessive “depth” of protection—a measure of the sequencing knowledge high quality—permitting investigators to detect extraordinarily low concentrations of circulating tumor DNA. Including an error-correcting methodology drastically improved the accuracy of the approach.
“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,” mentioned senior writer Dr. Dan Landau, the Bibliowicz Household Professor of Medication, and a member of the Englander Institute for Precision Medication and the Sandra and Edward Meyer Most cancers Middle at Weill Cornell Medication, and a core school member of the New York Genome Middle.
Blood-test-based “liquid biopsy” expertise for early most cancers detection and monitoring of most cancers burden in sufferers might revolutionize most cancers care. Nonetheless, sensitively and precisely figuring out the mutational signatures of most cancers, simply from tiny concentrations of tumor DNA in blood samples, has concerned main challenges. The Landau laboratory for a lot of the previous decade has been working to beat these challenges utilizing strategies based mostly on whole-genome sequencing—not simply focused sequencing of stretches of DNA the place mutations are anticipated. In a examine printed final 12 months, they confirmed that they may reliably detect superior melanoma and lung most cancers from affected person blood samples, even with out entry to sequence knowledge from tumor samples.
Within the new examine, they took their method a step additional. First, they confirmed that the low value of a brand new sequencing platform allows a depth of whole-genome sequencing that will have been prohibitively costly with older expertise. Utilizing that platform alone, and having the recognized mutational patterns in affected person tumors as a information, they had been in a position to detect tumor DNA in affected person blood samples at concentrations within the half per million vary. All samples within the examine had been collected after acquiring knowledgeable consent from the sufferers.
Subsequent, the staff enhanced the accuracy of this method with an error-correction methodology that makes use of the redundant info in pure two-stranded DNA. They confirmed that the mixed approach has extraordinarily low error charges, making it possible in precept to make use of on blood samples with out additionally needing entry to affected person tumors.
Collaborating with different analysis groups, the researchers demonstrated the potential of this high-sensitivity, low-error method through the use of it to detect and assess very low most cancers ranges in sufferers with bladder most cancers and melanoma from blood samples alone.
“This collaboration allowed us to analyze circulating tumor DNA from patients with bladder cancer and identify the distinct mutational signatures that my lab has extensively studied,” mentioned Dr. Bishoy M. Faltas, chief analysis officer of the Englander Institute for Precision Medication and affiliate professor of medication and of cell and developmental biology at Weill Cornell Medication. Dr. Faltas can be a urologic oncologist at NewYork-Presbyterian/Weill Cornell Medical Middle. “Incorporating these signatures into the analysis significantly increased the sensitivity of circulating tumor DNA detection.”
“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,” mentioned first writer Dr. Alexandre Cheng, a postdoctoral researcher within the Landau laboratory in the course of the examine.
“These results allow us to think about a future in which we can detect and track cancer from blood tests alone,” mentioned Dr. Landau, who can be an oncologist at NewYork-Presbyterian/Weill Cornell Medical Middle.
Extra info:
Alexandre Pellan Cheng et al, Error-corrected flow-based sequencing at whole-genome scale and its software to circulating cell-free DNA profiling, Nature Strategies (2025). DOI: 10.1038/s41592-025-02648-9
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New technique might allow most cancers monitoring from blood checks alone (2025, April 12)
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