Archives for AI blood test

Our recent study shows that patterns of cell-free DNA fragmentation across the genome can identify signatures of chronic noncancer conditions, including liver fibrosis and cirrhosis.  In the US alone, more than 100 million people are at risk for liver cirrhosis, yet many do not know it and there are limited options for diagnosis of early stage liver disease. This work highlights the potential for fragmentomic assays to provide a “physiological snapshot” of the underlying genomic and epigenomic state of all cells in the body, and opens the door to diagnosis and monitoring of a wide range of chronic conditions not previously studied in cfDNA. Congratulations to Akshaya Annapragada and all team members on this exciting effort to expand liquid biopsies beyond oncology, recently published in Science Translational Medicine!

Annapragada AV, Foda ZH, Orjuela H, Norton C, Koul S, Niknafs N, Short S, Boyapati K, Bartolomucci A, Mathios D, Noë M, Cherry C, Carey J, Leal A, Chesnick B, Dracopoli NC, Medina JE, Vulpescu NA, Bruhm DC, Bacus S, Adleff V, Kim AK, Baylin SB, Kirk GD, Sorop A, Iacob R, Iacob S, Gheorghe L, Dima S, Ramírez-Zea M, McGlynn KA, Feltoft CL, Johansen JS, Groopman J, Phallen J, Scharpf RB, Velculescu VE. Cell-free DNA fragmentomes for noninvasive detection of liver cirrhosis and other diseases. Science Translational Medicine. 2026 Mar 4;18(839):eadw2603. doi: 10.1126/scitranslmed.adw2603. Epub 2026 Mar 4. PMID: 41779869. Article | Press

We recently published a review in Nature Medicine describing the numerous applications of non-invasive cfDNA liquid biopsies in cancer care, from early detection to treatment monitoring and identification of recurrence. We further highlighted the promise of next-generation fragmentomic approaches that enable analyses of  millions of cancer-related changes across the entire genome.

Congratulations to Blair, Akshaya, and our teams for this informative article!

Landon BV, Annapragada AV, Niknafs N, Velculescu VE, Anagnostou V. Liquid biopsies across the cancer care continuum. Nature Medicine. 2025 Dec;31(12):4006-4021. doi: 10.1038/s41591-025-04093-9. Epub 2025 Dec 10. PMID: 41372534. Article

We recently developed novel cfDNA fragmentome-based methodologies to monitor response to treatment in pancreatic cancer, even in patients who do not have a baseline tumor tissue sample available. Pancreatic tumors are among the deadliest, and existing imaging strategies can take months to determine whether therapy is successfully treating a tumor, while our blood-based liquid biopsies may enable rapid treatment decisions. Congratulations to Carolyn (Carlie) Hruban, Daniel Bruhm, our collaborators Inna Chen, Julia Johansen, and members of  our team, and colleagues on this impactful effort, recently published in Science Advances!

Hruban, C., Bruhm, D. C., Chen, I. M., Koul, S., Annapragada, A. V., Vulpescu, N. A., Short, S., Theile, S., Boyapati, K., Alipanahi, B., Skidmore, Z. L., Leal, A., Cristiano, S., Adleff, V., Johannsen, J. S., Scharpf, R. B., Foda, Z. H., Phallen, J., & Velculescu, V. E. (2025). Genome-wide analyses of cell-free DNA for therapeutic monitoring of patients with pancreatic cancer. Science Advances, 11(21), eads5002. PMID: 40397745. Article | Press