Analytical and clinical validation of a circulating tumor DNA-based assay for multi-cancer early detection

Analytical and clinical validation of a circulating tumor DNA-based assay for multi-cancer early detection

Gene Solutions Gene Solutions

Gene Solutions

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发布日期: 2023年12月29日
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The development of multi-cancer early detection (MCED) through a single blood test has emerged as a promising method for improving the efficiency of early cancer detection and benefiting population health. However, the lack of analytical validation and clinical evidence for their utility in diverse populations have prevented their use in clinical practice. To address these challenges, we conducted a comprehensive analytical and clinical validation for an MCED test, SPOT-MAS (Screening for the Presence Of Tumor by DNA Methylation And Size). The analytical validation was to establish the limit of detection, reproducibility of test results and assess the impact of potential interferents on test performance. Specifically, SPOT-MAS could detect at least 50% of cancer samples at a specificity of 98% if the samples have tumor fraction more than 0.049 (95% CI: 0.043-0.059). The results were consistently reproduced for both intra- and inter-batch analysis. Moreover, our test remained robust at hemoglobin contamination of 500 mg/dl and genomic DNA contamination of up to 100%. To validate the performance of SPOT-MAS test in clinical settings, we launched a multi-center prospective trial, named K-DETEK, of 10,027 asymptomatic participants in Vietnam. Our assay achieved a positive predictive value of 58.14% (95%CI: 43.33-71.62) with 84.00% (95%CI: 65.35-93.60) accuracy in predicting tumor location and a negative predictive value of 99.92% (95%CI: 99.83-99.96). To our knowledge, this is the first and largest prospective validation study in Asia supporting the utility of SPOT-MAS as a multi-cancer blood test for early detection in a low- and middle-income country, where a nationwide cancer screening program is urgently needed but currently not available.

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