Current cancer screening methods are predominantly organ specific, utilizing diagnostic imaging tests with multiple modalities.
Deputy Medical Director. Oncology Division, Gene Solutions
University of Yamanashi, Japan. Genetics & Cancer Biology
One single blood draw during a healthcare visit.
High specificity limits false positive and unnecessary work–up.
The potential to identify cancer signals at an early stage, before clear symptoms have manifested.
The capability to test for cancers that do not have recommended screenings, and to act as a navigation tool for diagnostic imaging, thereby improving early detection opportunities.
Results follow-up: Positive ctDNA analysis results need confirmation through recommended cancer diagnostic imaging methods. Additionally, post-test counseling and monitoring have revealed emerging situations where there is discordance between the results of ctDNA analysis and diagnostic imaging. These discordances complicate the interpretation of results and raise questions about the application of the test in clinical practice.
The results section presents six clinical cases from the K-DETEK study to demonstrate the utility of the SOP in real-world clinical practice. Five cases were confirmed as true positives, with tumors found in organs such as the liver (Figure 2) , lung (Figure 3), breast, colon (Figure 4), and stomach. One false positive case was also included, highlighting the potential for benign lesions (Figure 5) to mimic cancer signals.
True Positives: The five true positive cases show how the SOP helped identify both precancerous and malignant lesions using ctDNA analysis, accurately predicting the tissue of origin and confirming early cancer stages.
False Positives: The false positive case underscores the challenge of benign conditions, like liver hemangioma, producing ctDNA signals similar to cancerous lesions. The SOP’s consultation and work-up procedures successfully identified this false positive.
The SOP provides a structured pathway for integrating these tests into clinical practice, guiding follow-up diagnostics and ensuring clarity for both patients and healthcare providers. The SOP has proven effective in confirming cancer diagnoses and managing precancerous conditions, as seen in several clinical cases.
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(2) Pinsky PF, Bellinger CR, Miller DP Jr. False-positive screens and lung cancer risk in the National Lung Screening Trial: implications for shared decision-making. J Med Screen. 2018;25(2):110–112. doi:10.1177/0969141317727771
(3) Braunstein GD, Ofman JJ. Criteria for evaluating multi-cancer early detection tests. Rev Oncol Haematol. 2021;17(1):3. doi:10.17925/OHR.2021.17.1.3
(4) Le Son Tran et al. Analytical and clinical validation of a circulating tumor DNA–based assay for multicancer early detection.. JCO 42, 10548- 10548(2024).DOI:10.1200/JCO.2024.42.16_suppl.10548
(5) GLOBOCAN 2022
Request the test through your primary care doctor. A prescription and 10ml blood collection are required.
Your extracted DNA from the plasma will be sequenced by Next–generation ctDNA technology to analyze methylation profile and multi–feature of DNA.
Receive your ctDNA signal analysis results after 20 working days from the time sample is received at Gene Solutions Genomics Singapore laboratory.