Advances in tests for colorectal cancer screening and diagnosis

Expert Rev Mol Diagn. 2022 Apr;22(4):449-460. doi: 10.1080/14737159.2022.2065197. Epub 2022 Apr 15.


Introduction: Colorectal cancer (CRC) is the second leading cause of cancer-related deaths globally. Nonetheless, with early detection of CRC or its precancerous lesions, mortality, and CRC incidence can be reduced. Although colonoscopy is currently the gold standard for CRC screening and diagnosis, its invasive nature, and troublesome bowel preparation deter patient participation. Therefore, there is a need to expand the use of noninvasive or minimally invasive methods to increase patient compliance.

Areas covered: This review summarizes advances in different methods for CRC screening, including stool bacterial and metagenomic markers, fecal proteins, genetic and epigenetic markers in blood and stools, and imaging modalities. The cost-effectiveness of these methods is also discussed. FIT is more cost-effective compared to virtual colonoscopy, mSEPT9 test, and Multitarget Stool DNA test, while the cost-effectiveness of other noninvasive methods requires further evaluation.

Expert opinion: Recent evidence has well demonstrated the usefulness of gut microbiome and certain fecal bacterial markers in the noninvasive diagnosis of CRC and its precancerous lesions. Many of the fecal biomarkers, from host cells or the gut environment, show better diagnostic sensitivity than FIT. New screening tests based on these fecal biomarkers can be expected to replace FIT with higher cost-effectiveness in the near future.

Keywords: Colorectal cancer; DNA methylation; DNA mutation; circulating tumor cells; colon capsule endoscopy; cost effectiveness; microRNA; microbial markers; screening; virtual colonoscopy.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / genetics
  • Early Detection of Cancer / methods
  • Humans
  • Mass Screening
  • Occult Blood
  • Precancerous Conditions*


  • Biomarkers