Performance of a targeted methylation-based multi-cancer early detection test by race and ethnicity

W. H.Wilson Tang, Habte Yimer, Mohan Tummala, Spencer Shao, Gina Chung, Jessica Clement, Bong Chul Chu, Earl Hubbell, Kathryn N. Kurtzman, Charles Swanton, Lewis R. Roberts

Research output: Contribution to journalArticlepeer-review


Disparities in cancer screening and outcomes based on factors such as sex, socioeconomic status, and race and ethnicity in the United States are well documented. A blood-based multi-cancer early detection (MCED) test that detects a shared cancer signal across multiple cancer types and also predicts the cancer signal origin was developed and validated in the Circulating Cell-free Genome Atlas study (CCGA; NCT02889978). CCGA is a prospective, multicenter, case-control, observational study with longitudinal follow-up (overall N = 15,254). In this pre-specified, exploratory, descriptive analysis, test performance was evaluated among racial and ethnic groups. Overall, 4077 participants comprised the independent validation set with confirmed cancer status (cancer: n = 2823; non-cancer: n = 1254). Participants were stratified into the following racial/ethnic groups: Black (non-Hispanic), Hispanic (all races), Other (non-Hispanic), Other/unknown and White (non-Hispanic). Cancer and non-cancer participants were predominantly White (n = 2316, 82.0% and n = 996, 79.4%, respectively). Across groups, specificity for cancer signal detection ranged from 98.1% [n = 103; 95% CI: 93.2–99.5%] to 100% [n = 85; 95% CI: 95.7–100.0%]. The sensitivity for cancer signal detection across groups ranged from 43.9% [n = 57; 95% CI: 31.8–56.7%] to 63.0% [n = 192; 95% CI: 56.0–69.5%] and generally increased with clinical stage. The MCED test had consistently high specificity and similar sensitivity across racial and ethnic groups, though results are limited by sample size for some groups. Results support the broad applicability of this MCED test and clinical implementation on a population scale as a complement to standard screening.

Original languageEnglish (US)
Article number107384
JournalPreventive Medicine
StatePublished - Feb 2023


  • Cancer disparities
  • Cancer screening
  • Clinical validation
  • MCED test
  • Multi-cancer early detection
  • Performance

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health


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