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The DELFI paper showed that the size and spacing of DNA fragments in blood differ in people with cancer, enough to detect seven cancer types in a laboratory comparison.
Cristiano and colleagues developed DELFI, which reads genome-wide fragmentation profiles of cell-free DNA from low-coverage whole-genome sequencing. In 236 patients with breast, colorectal, lung, ovarian, pancreatic, gastric or bile duct cancer and 245 healthy individuals, a machine-learning model detected cancer with sensitivities of 57% to more than 99% across the seven types at 98% specificity and localised tissue of origin to a limited number of sites in 75% of cases. Combined with mutation analysis, the approach detected 91% of patients with cancer.
Fragment patterns are a cheap signal that needs only shallow sequencing; Delfi Diagnostics now sells a lung-only test built on it, and several multi-cancer tests add fragmentomics to methylation.
Shares DELFI Diagnostics, Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
Shares cfDNA fragmentomics, Multi-cancer early detection (MCED).
Shares Cell-free DNA (cfDNA), Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA).
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