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.