A Decade of Precision Cancer Medicine
About Precision Cancer Medicine
Precision (also personalized) cancer medicine is guided by the specific biology of each patient’s cancer – the type and subtype of cancer a patient has, its set of genetic abnormalities, its vulnerability to various therapies, including immunotherapy, and the patient’s overall health and circumstances. It recognizes that each patient – and each patient’s disease – is unique, and that treatment is most effective when geared to these unique features.
A critical part of precision medicine involves identifying the DNA mutations and other alterations within a patient’s tumor cells to create a “tumor profile.” Today, drugs are available that precisely target these abnormalities. Such drugs enable doctors to strike at cancer’s fundamental roots in the genome, in ways that often produce milder side effects than traditional therapies.
In 2011, one of the nation's most comprehensive personalized cancer medicine initiatives was launched by our scientists. This project – called Profile – enables analysis of the DNA in tumor tissue from patients coming to Dana-Farber Cancer Institute, Brigham and Women's Hospital, and Boston Children’s Hospital for treatment of all types of cancer.
Every patient's tumor profile can potentially be used to select regimens of cancer therapies for individual patients. With Profile, scientists have created 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.
Read more about Profile and cancer genomics.
More than 100,000 patients have consented to have tumor tissue analyzed for the presence of mutations and other cancer-related DNA abnormalities. In the past 10 years, Profile has completed more than 50,000 genetic profiles of patients' tumors – reading the genetic code of over 400 genes in each tumor sample. These genes were chosen because they have been implicated in a variety of cancers and may indicate the efficacy of a treatment option for a patient. The test, called OncoPanel, is performed at the Center for Advanced Molecular Diagnostics, a CLIA-certified laboratory in the Department of Pathology at Brigham and Women's Hospital.
These "genetic profiling" studies are performed on samples of solid tumors, bone marrow, or blood to identify the specific DNA alterations driving a patient's cancer. Over the past decade, scientists have greatly expanded the ability to detect different types of alterations driving cancer – not only mutations, copy number changes and structural rearrangements in the tumor genome, but also newer signatures like mismatch repair deficiency and mutational burden; the latter can be used to predict response to new treatments like immunotherapy.
Non-tumor (Germline) Testing
In more recent years, testing has been expanded to non-tumor (germline) testing, which allows the assessment of inherited and de novo (new) alterations that may indicate cancer susceptibility in a patient and/or family members, as well as inform response to some therapies. Matched tumor-normal sequencing will now be offered to all patients. This new version of the test – comparing the tumor profile with a person’s germline profile – improves the specificity of the tumor report and provides additional information about each patient’s individual genome that may pertain to cancer.
Profile aims to detect a comprehensive spectrum of genetic alterations in tumors and germline samples to 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 precision cancer medicine.
This database, which adheres to emerging IT standards, also supports proposals for new research studies and clinical trials. We are a flagship member of AACR Project GENIE, which aims to share genomic data internationally across academic cancer centers, with a goal of furthering research and enabling new discoveries. GENIE recently announced the milestone of 100,000 tumor profiles in a database – the largest collection ever assembled.
Our researchers are also exploring novel mechanisms to profile very small amounts of tumor material, as well as less invasive ways to detect clinically important alterations ("liquid biopsies").
A History of Genetic Discoveries
Profile is part of a broader goal at Dana-Farber to advance the field of targeted therapy for cancer. Over the past decade, our scientists and physicians have been at the forefront of efforts to identify potential therapeutic targets and develop and test drugs capable of disabling them. Institute researchers have made key discoveries regarding the role of the EGFR and ALK genes in lung cancer, as well as KRAS, BRAF, and PI3KCA in colorectal cancer – all of which are prime targets for therapy.