Early cancer detection significantly improves patient outcomes. Current screening methods, however, are limited and only target a small percentage of all cancers. A new approach using liquid biopsies presents a promising solution for early cancer detection. These minimally invasive tests analyze blood samples for signs of cancer, offering the potential to identify various cancer types earlier than traditional methods. For more information, visit National Cancer Institute.
The Challenge of Early Detection
Improving Accuracy in Symptomatic Patients
A major hurdle in early cancer detection is the high rate of false positives in asymptomatic individuals. This is because cancer is relatively rare, even within high-risk groups. Consequently, focusing on symptomatic patients referred for cancer investigation in primary care offers a more targeted approach. However, many symptoms are non-specific, making it challenging to identify those who truly need further investigation. Researchers are striving to refine the process of risk stratification to improve accuracy and reduce unnecessary referrals.
The diagnostic landscape shows that while some advances have been made, early detection methods must continue evolving. Many patients present with non-specific symptoms that complicate diagnosis. For instance, over 7% of symptomatic referrals for suspected cancers led to actual diagnoses in the UK NHS during 2020/2021.
The SYMPLIFY5 Study and Multi-cancer Early Detection (MCED)
The SYMPLIFY5 study, using a multi-cancer early detection (MCED) test called Galleri, showed promise. The study demonstrated an overall sensitivity of 66.3% and specificity of 98.4% in detecting cancer in symptomatic patients. The test’s ability to correctly predict the cancer’s site of origin was also high (85.2%). The study highlights MCED’s potential to improve the accuracy of diagnosis and guide investigations.
Next-Generation Sequencing for Enhanced Detection
Whole Genome Sequencing (WGS) and Liquid Biopsies
Whole genome sequencing (WGS) offers a powerful tool for analyzing liquid biopsies. Unlike targeted sequencing, WGS examines the entire genome, potentially uncovering more subtle cancer signals. Furthermore, combining WGS with epigenetic analysis and protein markers enhances sensitivity across a wider range of cancers. This approach has the potential to replace the need for more invasive and time-consuming biopsy procedures.
TET-Assisted Pyridine Borane Sequencing (TAPS)
A novel technique called TET-Assisted Pyridine Borane Sequencing (TAPS) offers improvements over existing methods. TAPS is a less destructive way to detect methylation patterns associated with cancer. Because it preserves the genetic code, it enables simultaneous analysis of the genome and methylome—providing a more comprehensive picture of the cancer. This approach holds substantial promise for improving the sensitivity and accuracy of liquid biopsies testing.
These advancements in liquid biopsy technology using sophisticated techniques such as WGS and TAPS are revolutionizing cancer detection. They offer a less invasive, faster, and more accurate way to identify cancer earlier, leading to improved treatment and survival rates.
References
Vavoulis, D. V., Cutts, A., Thota, N., Brown, J., Sugar, R., Rueda, A., Ardalan, A., Howard, K., Santo, F. M., Sannasiddappa, T., Miller, B., Ash, S., Liu, Y., Song, C., Nicholson, B. D., Dreau, H., Tregidgo, C., & Schuh, A. (2025). Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals. Nature Communications, 16(1). https://doi.org/10.1038/s41467-024-55428-y
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