Profile, A personalized medicine cancer research study

March 29, 2014

Profile, a research project launched by scientists at Dana-Farber Cancer Institute and Brigham and Women's Hospital, is one of the nation's most comprehensive personalized cancer medicine initiatives. Since the project began in 2011, Profile scientists have been analyzing the DNA in tumor tissue from patients coming to Dana-Farber Cancer Institute and Brigham and Women's Hospital for treatment of all types of cancers. Subsequently, Profile testing has expanded to pediatric cancer patients at Boston Children's Hospital.

Every patient's cancer contains a specific pattern of DNA mutations and other alterations — called a "tumor profile" — that can potentially be used to select regimens of cancer therapies for individual patients. With Profile, scientists are creating one of the world's largest databases on the genetic abnormalities that drive the development of tumors, as well as advancing the goals of personalized, precision cancer care.

More than 20,000 patients have consented to have tumor tissue analyzed for the presence of mutations and other cancer-related DNA abnormalities. In its first two years, Profile has completed more than 6,500 genetic profiles of patients' tumors, adding about 400 each month to the database.

In a new phase of Profile, begun in 2013, a technology known as "massively parallel" or "next-generation" sequencing, reads the genetic code of approximately 300 genes in each tumor sample. "Massively parallel" refers to the technology's capacity for sequencing large numbers of genes simultaneously. These genes were chosen because they have been implicated in a variety of cancers.

Called OncoPanel, this advanced sequencing platform is an important update to the original OncoMapplatform. OncoPanel can detect not only genetic mutations, but also other critical types of cancer-related DNA alterations. Whereas OncoMap was limited to screening for known mutations, OncoPanel can discover new ones not previously identified.

The genotyping or "genetic profiling" studies are performed on samples of solid tumors, bone marrow, or blood specimens to identify the specific mutations and other DNA alterations driving a patient's cancer. The OncoPanel testing is done at the Center for Advanced Molecular Diagnostics, a CLIA-certified laboratory in the Department of Pathology at Brigham and Women's Hospital.

Objectives

Profile aims to detect genetic alterations in tumors and potentially identify targeted therapies that are most likely to be effective in individual patients. The databases of tumor genetic profiling data derived from a very large number of patients, and linked to clinical information, make Profile a powerful tool for discovery and personalized cancer medicine. This database, which adheres to emerging IT standards, also supports proposals for new research studies and clinical trials.

Future developments

To accommodate this constantly evolving field, the Profile program is expected to include germline genotyping and whole-genome sequencing in the future.