Blood Test Could Replace Bone Marrow Biopsy for Leukemia Detection: Study Finds

A study published in Nature Medicine reveals that a simple blood test could soon replace invasive bone marrow procedures for diagnosing and predicting leukemia. The research at the Weizmann Institute of Science offers a new method to detect early signs of blood cancer and monitor aging-related disease risk through the analysis of rare stem cells in the bloodstream.

Researchers have long been investigating how changes in blood-forming stem cells contribute to aging and disease. About one-third of individuals over age 40 exhibit genetic changes in these cells, which have been linked to leukemia, heart disease, diabetes, and other age-related conditions.

The new study focused on myelodysplastic syndrome (MDS), a disorder in which stem cells in the bone marrow fail to mature properly, potentially leading to severe anemia and acute myeloid leukemia. Traditionally, MDS is diagnosed through bone marrow sampling, a procedure involving local anesthesia that many patients find uncomfortable.

Researchers discovered that rare blood stem cells circulating in the bloodstream carry vital diagnostic information. By applying advanced single-cell genetic sequencing to a simple blood sample, researchers were able to detect early indicators of MDS and assess a person’s risk for blood cancer.

The team also found that these circulating stem cells can serve as a “biological clock,” providing insights into the aging process. Notably, they observed that in men, these cells change earlier than in women, potentially explaining the higher incidence of blood cancers among males.

The test is currently undergoing validation in a global clinical trial and could one day be expanded to detect a variety of blood-related disorders.

Reference: Furer, N., Rappoport, N., Milman, O. et al. A reference model of circulating hematopoietic stem cells across the lifespan with applications to diagnostics. Nat Med (2025). https://doi.org/10.1038/s41591-025-03716-5