Multiple myeloma (MUM) is a challenging bone marrow cancer, often preceded by conditions such as Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering Multiple Myeloma (SMUM). Traditionally, bone marrow biopsies have been used to assess risk and monitor genetic changes in these conditions. However, these biopsies are painful, 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. Researchers at Dana-Farber Cancer Institute have developed a blood test that could transform the diagnosis and monitoring of multiple myeloma and its precursor conditions.
The new method, known as SWIFT-seq, utilizes single-cell sequencing to profile circulating tumor cells (CTCs) in the blood, offering a non-invasive alternative to traditional bone marrow biopsies. SWIFT-seq offers an innovative alternative by allowing doctors to perform risk assessments and genetic monitoring using a simple blood test, making the process much easier and more reliable. Beyond counting CTCs, SWIFT-seq provides a detailed 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.
The study involved 101 patients and healthy donors, demonstrating that SWIFT-seq successfully captured CTCs in 90% of patients with MGUS, SMUM, and MUM. Notably, it identified CTCs in 95% of patients with SMM and 94% of patients with newly diagnosed MUM, 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.
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. The study is going to be published in Nature Cancer.
- Edited by Dr. Gianfrancesco Cormaci, PhD, specialist in Clinical Biochemistry.
Scientific references
Lightbody ED et al. Nature Cancer 2025 Aug; in press.
Sklavenitis-Pistofidis R et al. Blood. 2025; 146(1):89-103.
Alberge JB et al. Nat Genet. 2025 Jun; 57(6):1493-1503.
