Cell-free DNA testing: a promising future for colorectal cancer screening?

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A new study published in JAMA Oncology evaluates the potential benefits and costs of introducing cell-free DNA (cfDNA) testing for colorectal cancer screening in Canada, revealing that this emerging technology could significantly reduce cancer incidence and mortality if adoption rates are higher than those for existing tests like fecal immunochemical testing (FIT).

In this study, researchers simulated the impacts of cfDNA screening over a population of 32 million Canadians from 2024 to 2092 using the OncoSim-Colorectal model. The study compared the effectiveness of cfDNA tests to traditional methods like colonoscopy and FIT in terms of detecting colorectal cancer (CRC), reducing mortality and assessing the economic feasibility of implementation. The research considered the possibility of increased patient uptake, as well as the real-world feasibility of cfDNA assay performance.

Key Findings

  • Under higher participation, cfDNA screening detected 393,087 cases of CRC, compared to 156,009 cases detected by FIT, between 2024 and 2092.
  • The introduction of cfDNA screening could reduce mortality by 121,383 deaths when compared with FIT.
  • However, cfDNA testing is more costly, with an estimated CAD 234.80 (US$ $164.06) per health-adjusted person-year gained. This suggests that cfDNA would require careful cost-benefit analysis at a population scale.
  • The model showed that to achieve mortality reduction comparable to colonoscopy (the current gold standard), participation rates of 78% with 80% adherence, or 69% participation with 100% adherence, would be necessary.
  • If cfDNA testing were to see the same level of participation as FIT (43%), the impact on population health outcomes could be worse, with more deaths predicted than under FIT screening. This highlights the importance of improving uptake for cfDNA to realise its full potential.
    Clinical Implications

This study points to the growing potential of cfDNA testing in revolutionising colorectal cancer screening. If uptake can be significantly improved, cfDNA screening could become a key tool in early cancer detection, especially given its less invasive nature compared to colonoscopy. However, the study cautions that its impact on the population would be contingent on ensuring high patient participation and adherence.

Economic Considerations

While the clinical benefits are promising, the economic evaluation indicates that cfDNA screening is not yet a cost-effective alternative unless higher participation is achieved. With a price tag of CAD $234.80 per health-adjusted person-year gained, cfDNA testing may not be financially viable unless it leads to a more substantial reduction in cancer-related deaths through widespread patient acceptance.


Conclusion

In conclusion, this modelling study suggests that cell-free DNA screening has the potential to significantly reduce colorectal cancer mortality in Canada. However, the key challenge lies in improving patient participation and ensuring that the increased costs associated with cfDNA screening can be justified by its long-term benefits. This study paves the way for further research on the real-world implementation of cfDNA testing and the role patient preferences will play in shaping its success.


Paper: Hutchinson JM, Ruan Y, Chia BJ, et al. Modeling Population-Level Impacts of Cell-Free DNA Screening for Colorectal Cancer in Canada. JAMA Oncol. Published online May 01, 2025. doi:10.1001/jamaoncol.2025.0908.  Access online here.

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The ONA Editor curates oncology news, views and reviews from Australia and around the world for our readers. In aggregated content, original sources will be acknowledged in the article footer.

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