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The study that chose methylation as the basis of the Galleri test: in 6,689 people it found cancers of more than 50 types with few false positives, though only about one in five stage I cancers.
A prospective case-control substudy of the Circulating Cell-free Genome Atlas (NCT02889978) and STRIVE (NCT03085888): 6,689 participants (2,482 with cancer of more than 50 types, 4,207 without) were divided into training and validation sets, and plasma cell-free DNA underwent bisulfite sequencing of a panel of more than 100,000 methylation regions. In validation, specificity was 99.3% (95% CI 98.3 to 99.8). Stage I to III sensitivity was 67.3% in 12 prespecified cancer types and 43.9% in all cancer types. Across all cancer types sensitivity was 18% at stage I, 43% at stage II, 81% at stage III and 93% at stage IV. Tissue of origin was predicted in 96% of samples with a cancer-like signal and was accurate in 93% of those.
Methylation patterns can flag many cancers and point to the organ, but the cancers most worth catching early were the ones least often found.
Shares CCGA (Circulating Cell-free Genome Atlas), Eric A. Klein, Cell-free DNA methylation tests, GRAIL.
Shares CCGA (Circulating Cell-free Genome Atlas), Cell-free DNA methylation tests, GRAIL, Galleri.
Shares CCGA (Circulating Cell-free Genome Atlas), Cell-free DNA methylation tests, Galleri, DNA methylation profiling.
Shares Cell-free DNA methylation tests, GRAIL, Galleri, Multi-cancer early detection (MCED).
Shares Charles Swanton, Cell-free DNA methylation tests, GRAIL, Galleri.
Shares GRAIL, Galleri, Multi-cancer early detection (MCED).
Shares GRAIL, Galleri, Multi-cancer early detection (MCED).
Shares GRAIL, Galleri, Multi-cancer early detection (MCED).
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