A multi-genetic approach identifies cancer in both early and late stages, addressing the complexity of cancer’s genetic diversity.
Scientists have recently announced exciting progress in cancer detection, demonstrating how a new blood test could drastically improve how we detect cancer early, even in its most transient stages.
By using advanced technology to analyze tiny fragments of tumor DNA found in the bloodstream, this innovative approach could one day replace invasive procedures, making early cancer detection simpler and less stressful for patients(1✔ ✔Trusted Source
Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals
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Advanced Sequencing Techniques to Detect Cancer Early and Accurately
In the study, researchers used a cutting-edge technique known as TET-Assisted Pyridine Borane Sequencing (TAPS), paired with whole-genome sequencing (WGS), to detect a wide range of cancers from blood samples.
This method works by examining circulating tumor DNA (ctDNA) the genetic material released by tumors into the bloodstream. By sequencing this DNA, scientists can gather a wealth of information about the presence of cancer and its specific genetic characteristics.
The researchers focused on key genetic signals, including copy number changes, mutations, insertions or deletions, and DNA methylation patterns, a process that regulates gene activity.
What makes this study groundbreaking is its ability to integrate these different genetic signals into one comprehensive analysis. This multi-modal approach enabled researchers to accurately identify cancer in both early and late stages, something that previous tests have struggled to do.
The test demonstrated high sensitivity (85.2%) and specificity (88.8%), meaning it correctly identified cancer in a vast majority of cases while minimizing false positives.
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Another exciting finding is its potential to refine cancer diagnosis by accounting for the heterogeneity of cancer, the fact that different types of cancer have distinct genetic characteristics. For example, some cancers may release unique mutations or even viral-human DNA fragments into the bloodstream.
By analyzing multiple genetic features at once, the researchers were able to create a more accurate diagnostic profile for each cancer type, including those linked to infections or less commonly seen mutations.
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Next-Gen Cancer Detection: Challenges for Widespread Use
Despite the promising results, the researchers caution that larger studies and further research are still needed to validate this method in different types of cancers and among more diverse populations.
They also note that the technology requires deep sequencing (at least 80x coverage) of the DNA, which could limit its accessibility due to cost and complexity. Future studies will explore whether it’s possible to use lower sequencing depths, which could make the method more affordable and practical for widespread use.
Another significant challenge the team highlighted is the ability to predict the tissue of origin of the cancer, in other words, determining exactly where in the body the cancer started. The research team is working to improve this by developing a comprehensive map of methylation patterns across different tissue types. However, for now, this tissue-of-origin prediction remains an area of ongoing research.
In conclusion, this study marks an important leap forward in cancer detection technology. If these promising results are confirmed through larger studies, multi-cancer blood tests using ctDNA analysis could soon become a routine part of clinical care.
This would allow doctors to detect cancers earlier, improve patient outcomes, and avoid unnecessary invasive procedures. However, before this can become a reality, further research is needed to improve the technology and ensure it is accessible to all patients, regardless of their financial resources or the healthcare system they are part of.
Reference:
- Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals – (https:www.nature.com/articles/s41467-024-55428-y)
Source-Medindia
