Pharm'Up 
A groundbreaking blood test called SWIFT-seq may soon replace the painful and invasive bone marrow biopsy as the standard for diagnosing and monitoring multiple myeloma (MM), as well as its precursor conditions. Developed by researchers at the Dana-Farber Cancer Institute, this novel test offers a non-invasive “liquid biopsy” that provides a more detailed and accurate genetic profile than traditional methods.
The current standard of care for MM, the second most common hematologic malignancy, relies on bone marrow biopsies. These biopsies are often painful, performed infrequently, and their results can be inconclusive due to technical limitations of the associated fluorescence in situ hybridization (FISH) testing. This has created a critical need for a more advanced and patient-friendly diagnostic option.
SWIFT-seq addresses this need by using single-cell sequencing to profile circulating tumor cells (CTCs) from a simple blood sample. The test goes beyond just counting CTCs; it provides a comprehensive genetic profile that can characterize genomic alterations, estimate tumor growth rates, and measure key gene signatures to predict patient outcomes.
In a study of 101 patients with MGUS, SMM, or MM, SWIFT-seq accurately detected CTCs in 90% of patients across all disease stages. The test was particularly effective in populations that would benefit most from enhanced monitoring, detecting CTCs in 95% of patients with SMM and 94% of those with newly diagnosed MM. According to one of the senior authors, Irene M. Ghobrial, MD, SWIFT-seq’s ability to provide so much information from a single blood sample is a powerful tool for patient care. The researchers believe that the gene signature identified by the test could help explain mysteries of myeloma biology and potentially lead to new drug developments in the future.
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