Effectiveness of multitarget stool DNA versus faecal immunochemical testing alone in detecting colorectal cancer and advanced polyps: A systematic review.

BACKGROUND

Colorectal cancer screening (CRC) permits early detection of colorectal neoplasms. While faecal immunochemical test (FIT) is commonly used, multitarget stool DNA (mt-sDNA) has emerged as a promising alternative due to FIT's low sensitivity for advanced adenomas but has yet to be widely adopted. The objective of this review was to summarise the findings of studies comparing characteristics of mt-sDNA versus FIT in samples which completed both tests.

METHODS

A comprehensive search was conducted across three electronic databases (PubMed, CINAHL and Scopus) from inception to 30 November 2025. The search covered keywords including "Colorectal Neoplasms", "Diagnosis", "Faeces", "Immunochemical", "Occult blood", "DNA", "Research Design" and associated MeSH terms.

RESULTS

Six studies fulfilled inclusion criteria out of an initial 2629 unique records. mt-sDNA demonstrated superior sensitivity compared to FIT in detecting CRC (100.0% - 43.0%) and advanced adenomas (53.3% - 27.2%) but lower specificity (92.0% - 86.6%). Five studies provided receiver operating characteristic curves and the corresponding area under curve statistics, with mt-sDNA outperforming FIT especially when advanced adenoma detection was included. mt-sDNA was positively associated with size and quantity of tumours detected, outperforming standard FIT in number needed to screen as well as positive and negative predictive value metrics.

CONCLUSIONS

mt-sDNA shows promising test characteristics, but poorer comparative specificity may have downstream implications for population health screening. The economic, logistical and psychological impact of false positives must be considered. Current screening uptake and efforts to improve compliance should be considered before substituting FIT with mt-sDNA on account of higher per-unit cost.