Boston, MA — Researchers at the Dana-Farber Cancer Institute have unveiled a groundbreaking blood test poised to transform the diagnosis and monitoring of multiple myeloma (MM) and its precursor conditions. The innovative method, named SWIFT-seq, employs single-cell sequencing to profile circulating tumor cells (CTCs) in the blood, offering a non-invasive alternative to the traditional and often painful bone marrow biopsies.
The study, published in Nature Cancer, highlights the potential of SWIFT-seq to significantly enhance patient care. “A lot of work has gone into the identification of genomic and transcriptomic features that predict worse outcomes in MM, but we are still lacking the tests to measure them in our patients,” said Dr. Irene M. Ghobrial, the senior author of the study. “As a clinician, this is the type of next-generation test that I would want to order for my patients.”
Revolutionizing Myeloma Diagnosis
Multiple myeloma, a challenging bone marrow cancer, is often preceded by conditions such as Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering Multiple Myeloma (SMM). Traditionally, bone marrow biopsies have been the go-to method for assessing risk and monitoring genetic changes in these conditions. However, these procedures are not only painful but also infrequent, and the accompanying technique, Fluorescence in situ hybridization (FISH), often fails to provide clear results, leading to less effective risk assessment and influencing treatment decisions.
“It would be amazing if we had a blood-based test that can outperform FISH and that works in the majority of patients – we think SWIFT-seq may just be that test,” stated Dr. Romanos Sklavenitis-Pistofidis, co-first author of the study.
SWIFT-seq: A Game-Changer in Genetic Profiling
SWIFT-seq offers a revolutionary alternative by enabling doctors to conduct risk assessments and genetic monitoring through a simple blood test, making the process much easier and more reliable. Beyond merely counting CTCs, SWIFT-seq provides a comprehensive genetic profile, identifying key genetic changes crucial for understanding the disease. This method surpasses the accuracy of bone marrow tests like FISH.
Additionally, SWIFT-seq evaluates tumor growth rates and identifies important gene patterns that can predict patient outcomes, all from a single blood sample. “SWIFT-seq is a powerful option as it can measure the number of CTCs, characterize the genomic alterations of the tumor, estimate the tumor’s proliferative capacity, and measure prognostically useful gene signatures in a single test and from a blood sample,” emphasized Dr. Ghobrial.
Clinical Impact and Future Prospects
The study involved 101 patients and healthy donors, demonstrating that SWIFT-seq successfully captured CTCs in 90% of patients with MGUS, SMM, and MM. Notably, it identified CTCs in 95% of patients with SMM and 94% of patients with newly diagnosed MM, the groups most likely to benefit from improved risk stratification and genomic surveillance. SWIFT-seq’s ability to enumerate CTCs based on the tumor’s molecular barcode, rather than relying on cell surface markers, sets it apart from existing methods like flow cytometry.
SWIFT-seq not only measures multiple clinically relevant features directly from a blood sample but also provides novel insights into the biology of tumor cell circulation. “We identified a gene signature that we believe captures the tumor’s circulatory capacity and may partly explain some of the unexplained mysteries of myeloma biology,” said Dr. Elizabeth D. Lightbody, co-first author. “This can have a tremendous impact on how we think about curtailing tumor spread in patients with myeloma and could lead to the development of new drugs for patients.”
About Dana-Farber Cancer Institute
Dana-Farber Cancer Institute stands as one of the world’s leading centers for cancer research and treatment. Its mission is to reduce the burden of cancer through scientific inquiry, clinical care, education, community engagement, and advocacy. Dana-Farber is a federally designated Comprehensive Cancer Center and a teaching affiliate of Harvard Medical School.
As a global leader in oncology, Dana-Farber is dedicated to a unique and equal balance between cancer research and care, translating the results of discovery into new treatments for patients locally and around the world, offering more than 1,100 clinical trials.
The introduction of SWIFT-seq marks a significant advancement in myeloma diagnostics, offering a minimally invasive method to obtain multiple layers of clinically useful information from a single blood test. This breakthrough could lead to improved patient outcomes and a deeper understanding of myeloma biology.
