The somatic genotyping study will analyze 471 variations in 41 cancer genes, according to Dana-Farber's website. More than 1,500 patients are already enrolled, with approximately 10,000 more patients expected to be enrolled over the next 12 months and every year moving forward. Profile will be able grow and expand with the times as new mutations are discovered, with Dana-Farber's site noting that "germline genotyping is expected in the future," and "whole-exome sequencing and then whole-genome sequencing also will become part of this program." Fifteen different areas of focus are listed for the program, including breast, prostate, lung, skin and pancreatic cancer.
Profile will test solid tumors, bone marrow and blood samples, and the screening will be performed at BWH's Center for Advanced Molecular Diagnostics. The tissue testing will be performed with OncoMap, the system designed by researchers at Dana-Farber and the Broad Institute of MIT and Harvard. High-throughput and highly multiplexed, OncoMap uses high-speed, high-capacity machinery to prepare, sort and scan tumor tissue.
According to the program's leaders, working with such a large sample pool will allow researchers to get a handle on the extent of how diverse cancer is at the genetic level, as research has shown that tumor with similar characteristics often manifest different mutations. Identifying tumors' molecular characteristics and mutations will allow patients to receive therapies with proven effectiveness against those mutations, which currently happens only in a minority of cancer cases. One of the goals of the Profile project is to determine methods of applying this tactic to patients on a broad scale.
"We've learned a great deal about the role of specific mutated genes in cancer, and we now have technology for testing large numbers of tumor samples for those mutations," Dr. Janina Longtine, director of Molecular Diagnostics at BWH and a senior leader of the program, said in a press release. "For the first time, we have the opportunity to build a critical mass of genomic data that can be used to bring better treatments to patients."
In addition to the tumor tissue scans, participants' medical record information, such as the course of their disease, treatment response, relapse and side effects of the treatment, will also be collected into a second, separate database. Linking the data and being able to look at tumor mutations and treatment results side-by-side will allow researchers to determine which therapies are most effective against specific tumor types.
"All of the great advances that we're going to see in the next couple of years are going to come from large-scale studies, and this is going to be one of the largest," said Rollins in a video on Dana-Farber's site regarding Profile. "We are incredibly excited about what this can do for our research program, but eventually, the real measure of how successful this is, is have we positively impacted outcomes of cancer patients, and I think that we will."
