{"entity":{"id":"fragmentomics","kind":"technology","name":"cfDNA fragmentomics","aka":[],"tldr":"Fragmentomics reads the sizes and positions of DNA fragments in blood, not the mutations. Cancer cells die messily and leave a recognisable fragmentation pattern.","summary":"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.","status":"established","asOf":"2026-09-06","wikipedia":"https://en.wikipedia.org/wiki/Cell-free_DNA","links":[{"label":"DELFI FIRSTLUNG at ATS 2026","url":"https://www.biospace.com/press-releases/delfi-diagnostics-to-present-first-clinical-utility-data-for-blood-based-lung-cancer-screening-at-ats-2026-international-conference"}],"tags":["frontier"],"related":[],"cancers":["nsclc"],"sections":["early-detection","diagnostics"],"technologies":["liquid-biopsy","mced","mrd-testing"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["ctdna"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"principle":"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.","strengths":["Low cost per sample","Complements methylation and mutation signals","Sensitive to chromatin state of the cell of origin"],"limitations":["Lower specificity than deep methylation panels alone","Tissue-of-origin resolution weaker than methylation","Clinical utility (mortality benefit) unproven"]},"route":"/technologies/fragmentomics/","neighbours":{"cancer":[{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"}],"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"},{"id":"early-detection","kind":"section","name":"Early Detection & Screening","route":"/fronts/early-detection/"}],"technology":[{"id":"continuous-ctdna-monitoring","kind":"technology","name":"Continuous and near-continuous ctDNA monitoring","route":"/technologies/continuous-ctdna-monitoring/"},{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/"},{"id":"mrd-testing","kind":"technology","name":"MRD / molecular residual disease testing","route":"/technologies/mrd-testing/"},{"id":"mced","kind":"technology","name":"Multi-cancer early detection (MCED)","route":"/technologies/mced/"}],"term":[{"id":"cfdna","kind":"term","name":"Cell-free DNA (cfDNA)","route":"/terms/cfdna/"},{"id":"ctdna","kind":"term","name":"Circulating tumour DNA (ctDNA)","route":"/terms/ctdna/"}],"company":[{"id":"delfi-diagnostics","kind":"company","name":"DELFI Diagnostics","route":"/companies/delfi-diagnostics/"}],"bottleneck":[{"id":"b-early-detection","kind":"bottleneck","name":"The hardest cancers are found late","route":"/bottlenecks/b-early-detection/"}],"idea":[{"id":"idea-bio2-whole-genome-mrd-depth","kind":"idea","name":"Push residual disease detection a hundredfold deeper with whole-genome methods","route":"/ideas/idea-bio2-whole-genome-mrd-depth/"}],"roadmap":[{"id":"ctdna-tests","kind":"roadmap","name":"ctDNA tests roadmap: from a curiosity in plasma to blood tests that decide treatment","route":"/roadmaps/ctdna-tests/"},{"id":"diagnostics-roadmap","kind":"roadmap","name":"Diagnostics roadmap: stains → gene panels → blood tests that decide treatment","route":"/roadmaps/diagnostics-roadmap/"},{"id":"cure-paths","kind":"roadmap","name":"Paths to cures: interception, eradication, control","route":"/roadmaps/cure-paths/"}],"pathway":[{"id":"intravasation-ctc-survival","kind":"pathway","name":"Intravasation & circulating tumour cells","route":"/pathways/intravasation-ctc-survival/"}]}}