Detection and localization of surgically resectable cancers with a multi-analyte blood test.
Level 4 - case-series / case-control
Case-control diagnostic accuracy study comparing patients with known cancer diagnoses against healthy controls
PubMed 29348365 · doi:10.1126/science.aar3247
What was done
Researchers evaluated CancerSEEK, a multi-analyte blood test assessing circulating proteins and mutations in cell-free DNA. The test was evaluated in 1,005 patients with nonmetastatic, clinically detected cancers across eight types (ovary, liver, stomach, pancreas, esophagus, colorectum, lung, and breast) and 812 healthy control individuals.
What was found
CancerSEEK was positive in a median of 70% of cases across the eight cancer types. For five cancers lacking average-risk screening programs (ovary, liver, stomach, pancreas, and esophagus), sensitivity ranged from 69% to 98%. Specificity exceeded 99%, with 7 of 812 healthy controls testing positive. The assay successfully localized the primary tumor to a small number of anatomic sites in a median of 83% of patients.
Why it matters
This study demonstrates the feasibility of combining circulating protein markers with cell-free DNA mutations into a single blood test capable of detecting and localizing multiple surgically resectable cancers simultaneously.
Limits
The case-control design evaluated patients with clinically confirmed, established cancers rather than an asymptomatic screening cohort, which typically overestimates diagnostic sensitivity. Performance in broader, prospective real-world populations and the impact on clinical outcomes remain unproven.
Cited by
- supports Researchers at Johns Hopkins led by Bert Vogelstein developed a blood-based cancer screening test that combines protein biomarkers and circulating gene variants.