[2023-09-26] Early cancer detection
Tonight, I sat in on an Ovarian Cancer Canada webinar called Early Cancer Detection Using Cell-Free DNA Sequencing. Researchers at the University Health Network (UHN) in Toronto are trying to develop a tool to screen for many types of cancers all at once using something called cell-free DNA. Cell-free DNA—as webinar presenter Julia Sobotka explained—is short pieces of DNA that circulate freely in the blood. Most of the cell-free DNA in the blood comes from normal, healthy cells, she said, but it can also come from cancer cells.
The goal of UHN's CHARM (Cell-free DNA in Hereditary And high Risk Malignancies) research initiative is to develop a blood test to detect cancer early in patients at high risk of cancer, specifically people with a known or suspected Hereditary Cancer Syndrome. This means people—like me—who have inherited a genetic mutation, and people with a family history of cancer without a known gene change. Among the five types of hereditary cancer syndromes in scope for the new study are Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome.
Julia is a Research Genetic Counsellor and Program Manager of the CHARM consortium. She noted that, to date, CHARM has been retrospective: looking into the past to compare the results of cell-free DNA blood tests with those of diagnostic tests in detecting cancer. Now, CHARM is becoming prospective: looking to provide the results of cell-free DNA blood tests to patients and their doctors as a precursor or complement to additional diagnostic tests.
While the UHN research focuses on people with Hereditary Cancer Syndrome, Julia said that the findings of the work could eventually be applied to all people, not just those with an increased risk of cancer because of an inherited gene mutation.
It's encouraging to hear about research like CHARM. While the findings and potential broad applicability of the research are likely still years away, it's hopeful to know that work is ongoing to detect cancers earlier. This is especially important for cancers such as ovarian, endometrial and pancreatic for which there are no reliable screening tests.
