A consultation and work-up diagnosis protocol for a multicancer early detection test: a case series study

The emergence of multicancer early detection (MCED) tests holds promise for improving early cancer detection and public health outcomes. However, positive MCED test results require confirmation through recommended cancer diagnostic imaging modalities. To address these challenges, we have developed a consultation and work-up protocol for definitive diagnostic results post MCED testing, named SPOT-MAS. Developed through circulating tumor DNA (ctDNA) analysis and in line with professional guidelines and advisory board consensus, this protocol standardizes information to aid general practitioners in accessing, interpreting and managing SPOT-MAS results. Clinical effectiveness is demonstrated through a series of identified cancer cases. Our research indicates that the protocol could empower healthcare professionals to confidently interpret circulating tumor DNA test results for 5 common types of cancer, thereby facilitating the clinical integration of MCED tests. New tests can now screen for multiple types of cancer early, offering hope for better health outcomes. If one of these tests shows a positive result, doctors need to confirm it with imaging tests. We have developed a guide to help doctors understand and confirm these results. This guide could help healthcare professionals interpret results for five common types of cancer, making it easier to use these tests in regular medical practice. Developing a standard diagnostic follow-up protocol, known as Screening for the Presence Of Tumor by Methylation And Size (SPOT-MAS), to evaluate the performance of our multicancer early detection test and improve the clinical utility of liquid biopsy is essential for its widespread adoption and effectiveness in cancer diagnosis and management. The standard operating procedure ensures that appropriate steps are taken to achieve diagnostic resolution within a specified timeframe while providing comprehensive support and consultation for patients undergoing ctDNA analysis. To demonstrate the utility of our standard operating procedure in providing definitive diagnostic results to participants undertaking the SPOT-MAS test, a series of clinical cases were recorded in the K-DETEK study. This report presents a total of six clinical cases, including five true positive cases confirmed to have tumors at various stages in different organs (liver, lungs, breasts, colon and stomach) and one false positive case. The protocol ensures that healthcare professionals can confidently prov