Real-world data and clinical experience from over 100,000 multi-cancer early detection tests.
Level 4 - case-series / case-control
Uncontrolled real-world observational study evaluating diagnostic test performance with incomplete follow-up.
PubMed 41173830 · doi:10.1038/s41467-025-64094-7
What was done
Real-world commercial performance of the Galleri cell-free DNA methylation multi-cancer early detection (MCED) test was assessed across 111,080 tested individuals (median age 58 years, 55.5% male). The test evaluates cancer signal presence and predicts cancer signal origin (CSO). Clinical diagnostic outcomes and diagnostic workup duration were tracked based on provider-reported feedback for individuals with a positive cancer signal.
What was found
The cancer signal detection rate was 0.91% (1,011 of 111,080 tests). Healthcare providers returned clinical outcome data for 459 of the 1,011 positive individuals. Among these 459, 258 were confirmed to have an invasive cancer diagnosis across 32 cancer types (a positive predictive value of 56.2% among reported cases). The predicted CSO correctly matched the diagnosed cancer type in 87% of cases with a reported cancer diagnosis. Median time from test result receipt to confirmed cancer diagnosis was 39.5 days.
Why it matters
These findings provide large-scale commercial registry data demonstrating that multi-cancer cfDNA screening performs in broad clinical practice similarly to prior controlled clinical validation studies, with high CSO accuracy guiding workups in under six weeks.
Limits
Clinical follow-up was voluntary and incomplete, with outcome data reported for less than half (459/1,011) of signal-positive patients, introducing substantial reporting and attrition bias. The study did not track outcomes in the >110,000 test-negative individuals, precluding measurement of false negative rates, sensitivity, or negative predictive value. Mortality, stage shift, and overall screening utility were not evaluated.
Cited by
- supports Nearly 400,000 individuals have taken the Galleri multi-cancer early detection liquid biopsy test.