New Blood Test for Leukemia Risk Detection Could Replace Bone Marrow Sampling

Early and accurate diagnosis is vital, as MDS can cause severe anemia and potentially progress into acute myeloid leukemia, one of the most frequently occurring blood cancers in adults. Traditionally, diagnosing MDS has involved bone marrow sampling—an invasive procedure that requires local anesthesia and may cause discomfort or pain. Now, a new blood-based test aimed at identifying an individual's risk of developing leukemia could serve as a noninvasive alternative to bone marrow biopsies.

Scientists at the Weizmann Institute of Science (Rehovot, Israel) have been conducting extensive investigations into the biology of blood to gain a deeper understanding of the aging process and why susceptibility to certain diseases increases with age. Their multidisciplinary team, comprising physicians, biologists, and data scientists, has been monitoring how blood-forming stem cells evolve over time, including the appearance of genetic mutations in approximately one-third of individuals over the age of 40. These mutations not only heighten the risk of developing blood cancers like leukemia but are also associated with other age-related diseases such as heart disease and diabetes. In a recent study on MDS, published in Nature Medicine, the team found that rare blood stem cells—which occasionally leave the bone marrow and enter the bloodstream—carry crucial diagnostic indicators of MDS.

Their work revealed that a simple blood test, coupled with advanced single-cell genetic sequencing techniques, could detect early markers of MDS and even evaluate a person's risk of progressing to blood cancer. Another notable finding was that these circulating stem cells can act as biological clocks for chronological aging. In men, the changes in these cells appear earlier than in women, correlating with an increased cancer risk and potentially explaining the higher incidence of blood cancers in males. The researchers believe that this blood test has potential far beyond diagnosing MDS and leukemia—it could eventually be adapted for identifying a wide array of blood-related conditions. These findings are currently being validated in a large international clinical trial conducted across multiple medical centers.