Single Cell RNA Sequencing Could Enable Non-Invasive Blood Disorder Diagnosis

Hematologic disorders are often diagnosed using painful, invasive, and expensive bone marrow aspiration or biopsy procedures. These approaches limit patient compliance and broader utility, leaving a need for simpler and less invasive alternatives. Now, a new global clinical trial will test whether blood-based single-cell sequencing can offer a reliable substitute for diagnosing conditions such as Myelodysplastic Syndromes (MDS).

10x Genomics (Pleasanton, CA, USA); and the Weizmann Institute of Science (Rehovot, Israel), along with its spin-off translational diagnostics company, CLISEQ (Rehovot, Israel), have launched the PERIBLOOD clinical trial. This three-year study, enrolling over 1,500 participants across multiple continents, will compare single-cell RNA sequencing of peripheral blood against conventional bone marrow results. The technology is based on a Weizmann Institute discovery showing that circulating hematopoietic stem cells can reveal diagnostic signals for MDS.

The initial research, published in Nature Medicine, created the first reference model of circulating stem cells across the human lifespan and demonstrated accurate MDS diagnosis from blood. CLISEQ licensed this technology through Yeda, the institute’s commercialization arm, and is advancing it toward clinical validation. The trial will leverage 10x Genomics’ Chromium GEM-X platform to capture thousands of cell profiles per sample, offering a highly detailed molecular view.

If successful, this approach could establish single-cell sequencing as a minimally invasive diagnostic for a wide range of blood disorders. In addition to diagnosis, it could enable monitoring, therapy response tracking, and improved patient outcomes, reducing the reliance on invasive bone marrow procedures. Insights from the trial may also guide future assay development, broadening the use of single-cell genomics in hematology.

"Single cell technology has the potential to reshape how we diagnose and treat disease," said Serge Saxonov, CEO of 10x Genomics. "By enabling deep insights from a simple blood draw, success in this study would pave a path toward more accessible, less invasive diagnostics."

"The discovery that hematopoietic stem cells actually circulate in the blood and not just the bone marrow, unlocks new possibilities for blood diagnostics," stated Prof Liran Shlush, MD, PhD, Weizmann Institute.

"Hematological disorders are often analyzed using painful, invasive and expensive bone marrow aspiration/biopsy procedures, limiting their utility and patient compliance," added Ophir Herbst, Chairman, CLISEQ. "Technology advancements in single cell sequencing open up for the first time the potential to expand blood disorder understanding into non-invasive molecule diagnostics, enabling monitoring, therapy response, and improving patient outcomes."

Related Links:
10x Genomics
Weizmann Institute of Science
CLISEQ