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The development study of SPOT-MAS: reading methylation and fragment patterns together, with shallow sequencing, found about seven in ten of five cancers in a laboratory comparison.
Nguyen and colleagues developed SPOT-MAS to profile methylomics, fragmentomics, copy number and end motifs from targeted and shallow genome-wide sequencing (about 0.55x) of cell-free DNA. In 738 non-metastatic patients with breast, colorectal, gastric, lung or liver cancer and 1,550 healthy controls it detected cancer with 72.4% sensitivity at 97.0% specificity; sensitivities were 73.9% at stage I, 62.3% at stage II and 88.3% at non-metastatic stage IIIA. Tumour-of-origin accuracy was 0.7.
High early-stage figures at a lower specificity than screening needs; in the prospective K-DETEK study the test was run at 99.7% specificity.
Shares Gene Solutions, SPOT-MAS, cfDNA fragmentomics, Multi-cancer early detection (MCED).
Shares Gene Solutions, SPOT-MAS, Multi-cancer early detection (MCED).
Shares Gene Solutions, SPOT-MAS, Multi-cancer early detection (MCED).
Shares cfDNA fragmentomics, Cell-free DNA methylation tests, Multi-cancer early detection (MCED).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED).
Shares cfDNA fragmentomics, Cell-free DNA methylation tests, Multi-cancer early detection (MCED).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED).
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