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Fragmentomics reads the sizes and positions of DNA fragments in blood, not the mutations. Cancer cells die messily and leave a recognisable fragmentation pattern.
Fragmentomics analyses genome-wide cell-free DNA fragment length, end motifs, and nucleosome footprints at low sequencing depth, which is cheaper than deep mutation or methylation sequencing. DELFI Diagnostics commercialised FirstLook Lung (2023) as a blood test to increase uptake of low-dose CT screening, and presented the first randomised clinical-utility data (L301 FIRSTLUNG) at ATS 2026. Fragment features are also being layered into multi-cancer detection and MRD assays by Guardant, GRAIL, and academic groups.
Plasma cfDNA is whole-genome sequenced at ~1-2x depth; machine learning on fragment-size distributions across genomic windows distinguishes tumour-derived from haematopoietic DNA.
GC Genome's blood test from South Korea, launched in 2023 for six cancers, built on a method published with KAIST.
IMBdx's blood test from South Korea, offered at screening centres there, which in a laboratory study detected nine in ten cancers including stage I.
SeekIn's multi-omic blood test that adds DNA sequencing to its protein test; in published studies it found about six to seven in ten cancers and about four in ten at stage I.
Gene Solutions' low-cost blood test from Vietnam; in 9,024 people without symptoms about one in two hundred tested positive and four in ten of those had cancer.
One of few multi-cancer tests with a stage I figure above one in three, from a case-control set; the prospective figures rest on few cancers.
The drop from 87% in known cancers to 54% in people without symptoms is the usual gap between case-control and screening performance, shown in one paper.
A prospective screening result in a lower-middle-income country, with a positive predictive value similar to PATHFINDER's; the sensitivity rests on 24 cancers, and the test's tissue call was right about half the time.
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.
Whether a cancer is found depends mostly on how much tumour DNA it sheds into the blood, which is why small early cancers are often missed by every approach.
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.
Query for this technology: (TITLE:"cfDNA fragmentomics" OR ABSTRACT:"cfDNA fragmentomics") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about cfDNA fragmentomics, not a curated reading list.
Shares the tags frontier, precision.
Shares Cell-free DNA (cfDNA), ctDNA tests roadmap: from a curiosity in plasma to blood tests that decide treatment, Multi-cancer early detection (MCED), Circulating tumour DNA (ctDNA) and the tag precision.
Shares Paths to cures: interception, eradication, control, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA), Non-small-cell lung cancer and the tag frontier.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing and the tag precision.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA) and the tag precision.
Shares Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing, Non-small-cell lung cancer and the tag precision.
Shares Diagnostics roadmap: stains → gene panels → blood tests that decide treatment, ctDNA tests roadmap: from a curiosity in plasma to blood tests that decide treatment, Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing and the tag precision.
Shares Paths to cures: interception, eradication, control, Multi-cancer early detection (MCED) and the tag frontier.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
Estimates tumour fraction in cell-free DNA from ultra-low-pass whole-genome sequencing, a workhorse of liquid biopsy research.
Code behind the DELFI cell-free DNA fragmentation approach to cancer detection, from the Velculescu lab at Johns Hopkins.
Nucleosome profiling of cell-free DNA to infer tumour phenotypes, such as subtype, from plasma sequencing.
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