Non-Invasive Blood Test Promises to Replace Bone Marrow Biopsies for Multiple Myeloma Diagnosis and Monitoring

New Blood Test Offers Comprehensive View of Multiple Myeloma, Could Revolutionize Monitoring and Treatment

Boston, MA – August 8, 2025 – A groundbreaking new blood test, dubbed SWIFT-seq, is offering an unprecedented level of detail in understanding and tracking multiple myeloma, a cancer of plasma cells. Developed by researchers at Dana-Farber Cancer Institute, the test promises to improve risk stratification, monitor disease progression, and possibly unlock new therapeutic avenues for patients.

Currently, managing multiple myeloma – and its precursor conditions, monoclonal gammopathy of undetermined importance (MGUS) and smoldering multiple myeloma (SMM) – relies on a complex assessment of various factors. SWIFT-seq streamlines this process by analyzing circulating tumor cells (CTCs) captured from a single blood sample.

Unlike traditional methods, SWIFT-seq doesn’t just count CTCs; it delves into their genomic makeup, assesses the tumor’s proliferative capacity, and identifies key gene signatures linked to disease behavior. In a study of 101 patients with MGUS, SMM, or multiple myeloma, alongside healthy donors, the test demonstrated a high degree of accuracy, detecting CTCs in 90% of cancer patients. Notably, it identified CTCs in 95% of SMM patients and 94% of those newly diagnosed with multiple myeloma – groups where precise monitoring is crucial.

“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,” explained irene M. Ghobrial, MD, senior author of the study.

the research, published today in Nature Cancer, also revealed a previously unrecognized gene signature that appears to reflect the tumor’s ability to circulate – a critical factor in myeloma’s spread and progression.”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 Elizabeth D. Lightbody, MD, co-frist 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.”

Understanding the Myeloma Landscape

Multiple myeloma develops when plasma cells, a type of white blood cell responsible for producing antibodies, become cancerous. MGUS is an early, often asymptomatic stage where abnormal proteins are present but don’t cause significant harm. SMM represents a transitional phase, with a higher risk of progressing to active myeloma.Early detection and accurate risk assessment are paramount in managing these conditions.While some MGUS cases remain stable for years, others inevitably progress. SMM patients also exhibit varying rates of progression, making it challenging to determine who requires immediate intervention.

The Future of Myeloma Management

SWIFT-seq’s ability to provide a comprehensive snapshot of the disease at a molecular level could significantly refine risk stratification, allowing clinicians to tailor treatment strategies more effectively. The test’s potential extends beyond diagnosis and monitoring.By identifying specific genomic alterations within CTCs, it could also guide the selection of targeted therapies.

Furthermore, the newly discovered gene signature related to tumor circulatory capacity opens up exciting possibilities for developing novel drugs aimed at preventing or slowing the spread of myeloma cells.

The development of SWIFT-seq represents a major step forward in the fight against multiple myeloma, offering hope for improved outcomes and a better quality of life for patients facing this challenging cancer.

References:

lightbody E, Sklaventis-Pistofidis R, Wu T, et al. SWIFT-seq enables comprehensive single-cell transcriptomic profiling of circulating tumor cells in multiple myeloma and its precursors. Nature Cancer. August 8,2025. doi:10.1038/s43018-025-01006-0
Dana-Farber Cancer Institute unveils groundbreaking blood test for multiple myeloma. News Release. August 8, 2025. Accessed August 8, 2025. https://www.eurekalert.org/news-releases/1093817
Sherrell Z. What to know about smoldering multiple myeloma. Medical News Today. june 30, 2021. Accessed August 8, 2025. https://www.medicalnewstoday.com/articles/smoldering-multiple-myeloma
Gerlach A. From MGUS to myeloma: Understanding and interrupting disease progression. Pharmacy Times. june 3, 2025. Accessed August 8, 2025. https://www.pharmacytimes.com/view/from-mgus-to-myeloma-understanding-and-interrupting-disease-progression
* Gerlach A. Discontinuing lenalidom

What are the potential benefits of using ctDNA analysis for early detection of multiple myeloma compared to current methods?

Understanding the Current Landscape of Multiple Myeloma Diagnosis

Multiple myeloma,a cancer of plasma cells,traditionally relies on bone marrow biopsies for both diagnosis and monitoring. This procedure, while informative, is known for being invasive, painful, and carrying potential risks like bleeding and infection. Patients frequently enough experience significant anxiety surrounding the biopsy process.Current diagnostic methods include serum protein electrophoresis (SPEP), urine protein electrophoresis (UPEP), and immunofixation, but these frequently enough require confirmation with a bone marrow aspirate and biopsy. the need for a less burdensome approach has driven significant research into option diagnostic tools.

The Rise of ctDNA Analysis: A Game Changer

Circulating tumor DNA (ctDNA) analysis is emerging as a highly promising alternative. ctDNA refers to fragments of DNA released into the bloodstream by cancer cells. This non-invasive blood test can detect and analyse these fragments, providing a wealth of data about the myeloma without the need for a bone marrow biopsy.

Here’s how ctDNA analysis is revolutionizing myeloma management:

early Detection: ctDNA can perhaps detect myeloma at earlier stages, even before symptoms manifest, offering opportunities for proactive intervention.

Minimal Residual Disease (MRD) Monitoring: MRD, the presence of a small number of myeloma cells remaining after treatment, is a critical predictor of relapse. ctDNA analysis is proving to be highly sensitive in detecting MRD, ofen surpassing conventional methods.

Treatment Response Assessment: Changes in ctDNA levels can indicate how well a patient is responding to treatment, allowing for timely adjustments to therapy.

Mutation Profiling: ctDNA analysis can identify specific genetic mutations driving the myeloma, guiding personalized treatment strategies. This is particularly vital given the increasing availability of targeted therapies.

How Does ctDNA Testing Work?

The process is relatively straightforward:

1. Blood Sample Collection: A standard blood draw is performed.
2. DNA Extraction: DNA is extracted from the blood sample.
3. ctDNA Isolation: Specialized techniques are used to isolate the ctDNA fragments.
4. Next-Generation Sequencing (NGS): NGS technology is employed to analyze the ctDNA, identifying specific mutations and quantifying their levels.
5. Data Interpretation: Hematologists and oncologists interpret the results in the context of the patient’s clinical history and other test findings.

Benefits of Non-Invasive ctDNA Testing for Multiple Myeloma

The advantages of shifting towards ctDNA-based monitoring are substantial:

Reduced Patient Discomfort: eliminates the pain and anxiety associated with bone marrow biopsies.

Lower Risk of Complications: Avoids the potential risks of bleeding, infection, and bone pain linked to biopsies.

More Frequent Monitoring: The ease of blood draws allows for more frequent monitoring, providing a more dynamic picture of the disease.

Improved Treatment Decisions: Real-time insights into treatment response and MRD status enable more informed and personalized treatment decisions.

Cost-Effectiveness: While initial ctDNA testing can be expensive, the potential for reduced biopsy frequency and optimized treatment strategies may lead to long-term cost savings.

ctDNA vs. Bone Marrow biopsy: A Comparative Look

| Feature | Bone Marrow Biopsy | ctDNA Analysis |

|—|—|—|

| Invasiveness | Invasive | Non-invasive |

| Pain Level | Moderate to High | Minimal |

| Risk of Complications | Bleeding, infection, Bone Pain | Minimal |

| Frequency of Monitoring | Limited | Frequent |

| MRD Detection | Good, but can be limited | Highly Sensitive |

| Mutation Profiling | Possible, but less comprehensive | Comprehensive |

| Turnaround Time | Several Days | Typically Faster |

Real-World Examples and Emerging Research

Several clinical trials are currently underway evaluating the role of ctDNA in multiple myeloma. Preliminary results are highly encouraging. For exmaple, studies have shown a strong correlation between changes in ctDNA levels and clinical outcomes, including progression-free survival and overall survival.

Researchers at the University of Arkansas Medical Sciences (UAMS) have been at the forefront of ctDNA research in myeloma, demonstrating its utility in MRD detection and treatment monitoring. Their work, published in journals like The Lancet Oncology, highlights the potential of ctDNA to transform myeloma care.

Practical Tips for Patients Considering ctDNA Testing

Discuss with Your Hematologist: Determine if ctDNA testing is appropriate