ideasIdea
Cheap DNA fragment-pattern blood test as a first sieve before expensive cancer tests
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.
Cell-free DNA fragmentomics (DELFI) uses low-coverage whole-genome sequencing with machine learning and has been validated for lung cancer in high-risk cohorts. Propose a two-tier model: fragmentomics on everyone, deep methylation only on the top 10% by risk.
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.
What would test it
Re-analyse banked plasma from a prospective MCED cohort with both assays; then run a prospective tiered pilot.
Maturity
early clinical
Who has to act
industry
Cost to try
Medium ($1M to $50M)
Years to first evidence
4
Bottlenecks it attacks
- Most lethal cancers are found late · Screening exists for only a few cancers. Pancreatic, ovarian, liver, oesophageal and most lung cancers are found when cure is unlikely.