Physicians, researchers, and scientists at Dana-Farber Cancer Institute and Brigham and Women’s Hospital have recently launched Profile, one of the nation’s most comprehensive personalized cancer medicine initiatives. This study currently involves the analysis of 471 somatic mutations in 41 genes using OncoMap, a modification of Sequenom’s mass spectrometry platform, with planned transition to next generation sequencing.
The study has already enrolled more than 1,500 patients, with approximately 10,000 patients expected to be enrolled by consent over the next 12 months. The test, which is performed on solid tumors, bone marrow, or blood samples, identifies most of the genetic mutations currently implicated in cancer development and growth today.
All of the more than 16,000 cancer patients who come to Dana-Farber and Brigham and Women’s Hospital for treatment each year are eligible to participate in this study. Pediatric patients will be eligible to participate in the near future. Screening is performed at the Brigham and Women’s Hospital Center for Advanced Molecular Diagnostics, a CLIA-certified laboratory.
Profile aims to detect genetic alterations in tumors and potentially identify targeted therapies that are most likely to be effective in individual patients. The database of tumor genomic profiling data derived from a very large number of patients linked to clinical information makes Profile a powerful tool for discovery and personalized cancer medicine. This database, which adheres to emerging IT standards, also will support proposals for new research studies and clinical trials.
To accommodate this constantly evolving field, the study’s platform is designed to scale up to include additional screening for new mutations as they are discovered. Germline genotyping is expected in the future. Whole exome sequencing and then whole genome sequencing also will become part of this program.
Over the past decade, our physicians, researchers, and scientists have been at the forefront of personalized cancer medicine discoveries. As a result, targeted therapies have become the standard of care in multiple types of cancer, including colorectal cancer, lung cancer, and breast cancer. These include EGFR and ALK discoveries in lung cancer, triple negative and HER2-postive breast cancers, and KRAS, BRAF and PIK3CA in colorectal cancer.
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