{"entity":{"id":"paper-bao-fragmentomics-nat-med-2025","kind":"paper","name":"Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics","aka":[],"tldr":"Geneseeq's whole-genome fragment test found most cancers in a laboratory set, and about half, mostly early, in a first prospective group of 3,724 people without symptoms.","summary":"Bao and colleagues (Nanjing Geneseeq Technology) evaluated a multi-cancer test using genetic and fragmentomic features from whole-genome sequencing of plasma cell-free DNA. In an internal validation cohort (3,021 with cancer, 3,370 without) and an independent cohort (677 with cancer, 687 without), the independent set gave 87.4% sensitivity, 97.8% specificity and 82.4% tissue-of-origin accuracy. Preliminary results from a prospective study of 3,724 asymptomatic participants showed 53.5% sensitivity, predominantly for early-stage cancers, and 98.1% specificity.","asOf":"2026-10-29","links":[{"label":"Nature Medicine 2025","url":"https://doi.org/10.1038/s41591-025-03735-2"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/40425843/"}],"tags":[],"related":[],"cancers":[],"sections":["early-detection"],"technologies":["mced","fragmentomics"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nature-medicine"],"dependsOn":[],"notes":[],"journal":"Nature Medicine","year":2025,"doi":"10.1038/s41591-025-03735-2","pmid":"40425843","authors":"Bao H, Yang S, Chen X, et al.","paperType":"observational","findings":["Independent validation: 87.4% sensitivity, 97.8% specificity, 82.4% tissue of origin.","Prospective asymptomatic cohort (3,724): 53.5% sensitivity, 98.1% specificity."],"whatItMeans":"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.","caveats":["Prospective results are preliminary.","The abstract does not name a commercial product."],"changedPractice":false,"participants":11479},"route":"/key-papers/paper-bao-fragmentomics-nat-med-2025/","neighbours":{"section":[{"id":"early-detection","kind":"section","name":"Early Detection & Screening","route":"/fronts/early-detection/"}],"technology":[{"id":"fragmentomics","kind":"technology","name":"cfDNA fragmentomics","route":"/technologies/fragmentomics/"},{"id":"mced","kind":"technology","name":"Multi-cancer early detection (MCED)","route":"/technologies/mced/"}],"journal":[{"id":"nature-medicine","kind":"journal","name":"Nature Medicine","route":"/journals/nature-medicine/"}]}}