Non-invasive early detection of cancer four years before conventional diagnosis using a blood test

TLDR

Early detection can reduce cancer mortality, but a screening test must prove asymptomatic detection years before conventional diagnosis in a longitudinal study. This study reports preliminary results of PanSeer, a noninvasive blood test using circulating tumor DNA methylation, on plasma from 605 asymptomatic individuals in the Taizhou Longitudinal Study, 191 of whom were later diagnosed with stomach, esophageal, colorectal, lung, or liver cancer within four years. The authors collected plasma from 123,115 healthy participants in the Taizhou Longitudinal Study, assayed 605 asymptomatic individuals and 223 cancer patients, and included 200 primary tumor and normal tissues to evaluate PanSeer. PanSeer detected five common cancers in 88% of post‑diagnosis patients with 96% specificity and identified cancer in 95% of asymptomatic individuals who later developed disease, demonstrating non‑invasive detection up to four years before standard care.

Abstract

Abstract Early detection has the potential to reduce cancer mortality, but an effective screening test must demonstrate asymptomatic cancer detection years before conventional diagnosis in a longitudinal study. In the Taizhou Longitudinal Study (TZL), 123,115 healthy subjects provided plasma samples for long-term storage and were then monitored for cancer occurrence. Here we report the preliminary results of PanSeer, a noninvasive blood test based on circulating tumor DNA methylation, on TZL plasma samples from 605 asymptomatic individuals, 191 of whom were later diagnosed with stomach, esophageal, colorectal, lung or liver cancer within four years of blood draw. We also assay plasma samples from an additional 223 cancer patients, plus 200 primary tumor and normal tissues. We show that PanSeer detects five common types of cancer in 88% (95% CI: 80–93%) of post-diagnosis patients with a specificity of 96% (95% CI: 93–98%), We also demonstrate that PanSeer detects cancer in 95% (95% CI: 89–98%) of asymptomatic individuals who were later diagnosed, though future longitudinal studies are required to confirm this result. These results demonstrate that cancer can be non-invasively detected up to four years before current standard of care.