Dr. Dana Lukin, MD, AGAF, from Weill Cornell Medical College, praised the method for its potential in confirming IBD diagnoses and distinguishing IBD from non-IBD cases. However, he also highlighted the need to determine if cfDNA can differentiate between IBD and other conditions like colorectal cancer or infections that produce similar microbial signatures.
Key Points:
- Shiv Kale, PhD, from Karius Inc., presented the results at the annual Crohn’s & Colitis Congress®. The company’s Karius Test, which is being developed for various infections and febrile neutropenia, also focuses on cfDNA.
- cfDNA has been a useful biomarker in cancer screening, prenatal testing, and organ monitoring post-transplantation. It is based on the release of DNA from human and microbial cells after cell death, which is detectable in plasma.
- The study included 196 patients with Crohn’s disease and 196 with ulcerative colitis, encompassing various disease severities. All patients underwent endoscopic assessment within 30 days of plasma measurements.
- cfDNA successfully distinguished between patients with Crohn’s disease, ulcerative colitis, and asymptomatic individuals with a high sensitivity (99.5%) and specificity (90%).
Future Directions:
- A follow-up study involving 1800 samples is planned in collaboration with the Crohn’s and Colitis Foundation to further examine cfDNA’s ability to determine disease severity, location, and subtypes of Crohn’s disease.
- The method’s ability to differentiate between IBD and non-IBD is particularly notable, as current serologic-based assays struggle in this area.
Considerations and Potential Applications:
- The technology could be especially useful for children, those reluctant to undergo invasive testing, or where such testing is logistically challenging.
- Prospective studies are needed to validate this approach and to see if cfDNA can correlate with disease activity over time.