New method may enable cancer monitoring from blood tests : Report

The method, based on whole-genome sequencing of DNA, also represents an important step toward the goal of routine blood test-based screening for early cancer detection.

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Report: New method may enable cancer monitoring from blood testsI’m

A novel, error-corrected technique for identifying cancer from blood samples is significantly more sensitive and accurate than previous methods and could be helpful for monitoring patients' disease status following treatment, according to a study by Weill Cornell Medicine and New York Genome Center investigators.

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In the study, the researchers benchmarked the cancer-detection performance of a new commercial sequencing platform from Ultima Genomics.

They demonstrated that a low-cost platform such as this one enables a very high "depth" of coverage--a measure of the sequencing data quality--allowing investigators to detect extremely low concentrations of circulating tumour DNA. Adding an error-correcting method greatly improved the accuracy of the technique.

Blood-test-based "liquid biopsy" technology for early cancer detection and monitoring of cancer burden in patients could revolutionise cancer care. However, sensitively and accurately identifying the mutational signatures of cancer, just from tiny concentrations of tumor DNA in blood samples, has involved major challenges.

The Landau laboratory for most of the past decade has been working to overcome these challenges using methods based on whole-genome sequencing--not just targeted sequencing of stretches of DNA where mutations are expected. In a study published last year, they showed that they could reliably detect advanced melanoma and lung cancer from patient blood samples, even without access to sequence data from tumour samples.

In the new study, they took their approach a step further. First, they showed that the low cost of a new sequencing platform enables a depth of whole-genome sequencing that would have been prohibitively expensive with older technology.

Using that platform alone and having the known mutational patterns in patient tumors as a guide, they were able to detect tumour DNA in patient blood samples at concentrations in the part per million range. All samples in the study were collected after obtaining informed consent from the patients.

 

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