{"entity":{"id":"idea-prev-fragmentomics-first-tier","kind":"idea","name":"Cheap DNA fragment-pattern blood test as a first sieve before expensive cancer tests","aka":[],"tldr":"How DNA fragments in blood are chopped up differs in cancer and can be read with cheap, shallow sequencing. Used as a first sieve, it could cut the cost of population screening.","summary":"The way DNA fragments in blood are chopped up differs in cancer and can be read with cheap, shallow sequencing, so this idea uses cell-free DNA fragmentomics as a first sieve, with deep methylation testing reserved for the top tenth by risk. DELFI Diagnostics and Johns Hopkins have validated fragmentomics with low-coverage whole-genome sequencing and machine learning in high-risk lung cohorts. Cost per test rather than accuracy limits yearly population screening, and tiering is how HPV and cytology triage already works. The test re-analyses banked plasma from a prospective MCED cohort with both assays, then runs a prospective tiered pilot. At early-clinical maturity it addresses the bottleneck The hardest cancers are found late.","asOf":"2026-09-08","links":[{"label":"Bottleneck evidence (The hardest cancers are found late): Crosby et al., Early detection of cancer (Science 2022)","url":"https://doi.org/10.1126/science.aay9040"}],"tags":[],"related":[],"cancers":[],"sections":["early-detection"],"technologies":["liquid-biopsy","mced"],"targets":[],"drugs":[],"companies":["delfi-diagnostics"],"institutions":["johns-hopkins"],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":["b-early-detection"],"keyPapers":["paper-crosby-science"],"journals":[],"dependsOn":[],"notes":[],"hypothesis":"A two-tier design achieves at least 90% of the sensitivity of universal deep methylation testing at 30% or less of the sequencing cost.","rationale":"Cost per test, not accuracy, limits yearly population screening; tiering is how HPV and cytology triage already works.","test":"Re-analyse banked plasma from a prospective MCED cohort with both assays; then run a prospective tiered pilot.","maturity":"early-clinical","actor":"industry","cost":"medium","horizonYears":4},"route":"/ideas/idea-prev-fragmentomics-first-tier/","neighbours":{"section":[{"id":"early-detection","kind":"section","name":"Early Detection & Screening","route":"/fronts/early-detection/"}],"technology":[{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/"},{"id":"mced","kind":"technology","name":"Multi-cancer early detection (MCED)","route":"/technologies/mced/"}],"company":[{"id":"delfi-diagnostics","kind":"company","name":"DELFI Diagnostics","route":"/companies/delfi-diagnostics/"}],"institution":[{"id":"johns-hopkins","kind":"institution","name":"Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center","route":"/institutions/johns-hopkins/"}],"bottleneck":[{"id":"b-early-detection","kind":"bottleneck","name":"The hardest cancers are found late","route":"/bottlenecks/b-early-detection/"}],"paper":[{"id":"paper-crosby-science","kind":"paper","name":"Early detection of cancer","route":"/key-papers/paper-crosby-science/"}]}}