Test has proved able to detect and indicate site of dozens of types of cancer with high accuracy in earlier studies
Recent advances such immune, cellular and targeted therapies have provided new and effective means to treat a variety of cancers. But despite this considerable progress, cancer caught in its earliest stages remains the most curable. That is why Dana-Farber Cancer Institute is opening a new clinical trial to evaluate a minimally invasive blood test that will look for the earliest signs of cancer which may be present in the blood stream before the disease has progressed to a point where it causes symptoms. The research team is aiming to enroll hundreds of individuals in this clinical study over the next several weeks.
In earlier studies, researchers from Dana-Farber and the Mayo Clinic found that a blood test developed by GRAIL, Inc. could detect more than 50 types of cancer as well as their location within the body with a high degree of accuracy. The overall specificity of the test was 99.3%, meaning that the test incorrectly indicated that cancer was present less than 1% of the time. The sensitivity of the assay for 12 cancers that account for nearly two-thirds of U.S. cancer deaths was 67.3%, meaning the test could find the cancer two-thirds of the time. Notably, many of these deadly cancers the test can detect are not screened for and are often diagnosed at advanced stages.
Dana-Farber and other major cancer centers across the country are now participating in the PATHFINDER study to help researchers further refine this blood test and understand how it might be integrated into routine clinical care. Participation in the study involves providing a medical history, completing a questionnaire, followed a blood sample drawn by a trained practitioner. Results of the test are then communicated to participants within 30 days. Most patients will have a negative test result. Those who have a positive test result undergo a workup conducted by their own physicians or Dana-Farber physicians to see if there is any evidence of cancer.
“Right now, we screen for most cancers using radiology scans and for many types of cancer we lack any effective screening test,” said Deborah Schrag, MD, MPH Chief, Division of Population Sciences at Dana-Farber and Principal Investigator of PATHFINDER study. “We are investigating this exciting new technology and learning how reliably a blood test can detect early stage cancers. We are immensely grateful to cancer survivors and their cancer free partners who choose to participate in this study and expect that it will help us learn about a new approach to cancer screening.”
Enrollment in the PATHFINDER is open to adults over age 50 without cancer history or to cancer survivors over the age of 50 who have been cancer free for at least three years. The study is open to those who receive care through the Mass General Brigham HealthCare system including anyone who has received care at Dana-Farber, Mass General, Brigham and Women’s Hospital, Newton-Wellesley Hospital, North Shore Medical Center, and other MGB affiliates. Interested study participants can sign-up or find out more information by emailing PATHFINDERSTUDY@DFCI.HARVARD.EDU
The blood test uses technology known as next-generation sequencing to analyze the arrangement of chemical units called methyl groups on the DNA of cancer cells that are circulating in bloodstream. Adhering to specific sections of DNA, methyl groups help control whether genes are active or inactive. In cancer cells, the placement of methyl groups, or methylation pattern, is often markedly different from that of normal cells – to the extent that abnormal methylation patterns are even more characteristic of cancer cells than genetic mutations are. When tumor cells die, their DNA, with methyl groups firmly attached, empties into the blood, where it can be analyzed by the new test.