A collaborative team from Dana-Farber has developed a new platform for immune cell profiling to enable earlier, more accurate and easier diagnosis and prognosis for patients with multiple myeloma. Grown out of a research collaboration between Dana-Farber investigators Prof. Irene Ghobrial, PhD, director, Clinical Investigator Research Program and Lavine Family Chair for Preventive Cancer Therapies, Prof. Kenneth Anderson, MD, director, Jerome Lipper Multiple Myeloma Center and LeBow Institute for Myeloma Therapeutics, and Romanos Sklavenitis-Pistofidis, MD, PhD, Department of Medical Oncology, along with Prof. Gad Getz, PhD of the Broad Institute, the tool taps into the immune system as a sensor for detecting multiple myeloma and identifying the most effective treatment for patients.
Traditional diagnostic tools for multiple myeloma include bone marrow biopsy and FISH (fluorescence in situ hybridization), both of which fall short of meeting the needs of both clinicians and patients. FISH, a method for pinpointing disease-contributing genes, has a 30-50% failure rate, overlooking crucial genome aberrations pivotal for guiding therapy. Bone marrow biopsy, marked by its discomfort and inconvenience, necessitates repeated procedures after relapse, subjecting patients to a cycle of 10-15 biopsies in a lifetime.
The new platform hinges on whole genome sequencing of circulating tumor cells and single-cell sequencing of immune cells isolated from blood samples. This approach offers improved accuracy in diagnosing and predicting the prognosis of multiple myeloma compared to FISH and biopsy.
While the FDA has approved over 20 drugs for multiple myeloma, the lack of a precise blood-based method to match patients with appropriate treatments remains a critical gap, including therapy for some of the latest promising drugs like bispecific antibodies and CAR T therapies. This platform identifies patients with specific genomic alterations unlikely to respond to such treatments, thus sparing them undue toxicity.
Accelerator funding is supporting critical steps in the validation of the platform, enabling the creation of detailed reports for both diagnosing disease and predicting disease outcome from a single blood sample.
By deeply understanding changes in the immune system, we can define patients who may respond to immunotherapy or even identify cancer early.
Irene Ghobrial, PhD
“By deeply understanding changes in the immune system, we can define patients who may respond to immunotherapy or even identify cancer early,” says Dr. Ghobrial. “This platform has profound potential for clinical diagnostic benefit, and importantly can also be used to identify novel targets and prioritize them for future therapeutic discoveries.”
Senior Vice President, Experimental Medicine
Director, Center for Early Detection and Interception of Blood Cancers
Co-Leader, Lymphoma/Myeloma Cancer Center Program
Lavine Family Chair for Preventative Cancer Therapies, Dana-Farber
Professor of Medicine, Harvard Medical School
Director, LeBow Institute for Myeloma Therapeutics and Jerome Lipper Multiple Myeloma Center, Dana-Farber
Kraft Family Professor of Medicine, Harvard Medical School
