Watch the full episode on Youtube.
Dr. Dan Rubin, host of Rubin on Point! hosted our very own Dr. Richard Bernert, COO of Precision Epigenomics! With a background as a pathologist – essentially the expert who helps clinicians understand disease at the cellular level – Dr. Bernert brings a unique perspective to the fight against cancer.
They dove deep into a critical topic: early cancer detection. As Dr. Bernert points out, cancer is a global problem, with over 20 million new diagnoses and 10 million deaths worldwide each year. In the United States alone, we see more than 2 million new cases and over 611,000 deaths annually. A major factor contributing to these grim numbers? Late detection.
While we have some valuable screening tools for cancers like prostate (PSA), breast (mammography), colon (colonoscopy/fecal tests), and cervical (Pap testing), these only cover a small percentage of potential cancers. Traditional tumor markers like CA19-9 or CEA aren’t reliable for early screening because they lack specificity, meaning they could lead to many unnecessary follow-up procedures. The current healthcare system often feels reactive, focused on fixing illness after it’s progressed, rather than proactively preventing it.
This is where the exciting potential of new technologies comes in. Dr. Bernert is particularly enthusiastic about the test, a type of liquid biopsy. Unlike traditional biopsies that require taking solid tissue, a liquid biopsy uses a biofluid, such as peripheral blood. The EPISEEK™ test specifically analyzes a small amount of blood to look for circulating tumor DNA (ctDNA).
How does it work? As tumors grow, some cancer cells die and release tiny bits of their abnormal DNA into the bloodstream. The EPISEEK™ test is designed to detect these abnormal signals, specifically focusing on abnormal methylation patterns. Methylation is a key part of epigenetics, which controls which parts of our DNA are turned on or off in different cells. In cancer cells, this methylation goes awry, and the EPISEEK™ test looks for areas that are hypermethylated when they shouldn’t be. This technology can look for signals from more than 60 different cancer types.
The goal is to detect cancers when they are in early stages (stage I or II), ideally before symptoms even appear. Diagnosing cancer early typically means more treatment options, less expense, and better outcomes compared to later stages.
The EPISEEK™ test is primarily recommended for individuals 45 and older for general risk, but those with risk factors like smoking, family history, high stress, or lifestyle concerns can consider it from age 21. It’s important to know that this test is ordered through a healthcare provider, not direct-to-consumer, to ensure proper interpretation and follow-up. The results are reported as either “No cancer signal detected” or “Abnormal methylation signal detected”. An abnormal signal doesn’t guarantee cancer, but indicates a need for further investigation, with a positive predictive value of 40% in detected cases.
This conversation highlights a hopeful shift towards proactive health and the potential for innovative tools like the EPISEEK™ test to truly save lives by catching cancer when it’s most treatable. It’s a powerful reminder that the future of cancer care is moving towards earlier, less invasive detection methods.