This article is more than 5 years old. Information may no longer be current.
Novel blood test aims to detect cancer in its earliest stages
Click Here to Manage Email Alerts
Johns Hopkins Kimmel Cancer Center researchers have developed a blood test designed to screen for the eight most common cancer types.
If malignancy is detected, the test helps identify the location of the cancer.
The noninvasive, multianalyte test — called CancerSEEK — also evaluates the presence of genetic mutations in circulating tumor DNA within patients’ blood.
“Circulating tumor DNA mutations can be highly specific markers for cancer. To capitalize on this inherent specificity, we sought to develop a small yet robust panel that could detect at least one mutation in the vast majority of cancers,” Joshua Cohen, an MD/PhD student at Johns Hopkins University School of Medicine, said in a press release. “In fact, keeping the mutation panel small is essential to minimize false-positive results and keep such screening tests affordable.”
HemOnc Today spoke with Cohen about the test and how it works, the efficacy that has been observed so far, and the potential benefits the test may offer if future research validates its clinical utility.
Question: Can you briefly describe the test and how it works?
Answer: Our goal was to develop a noninvasive blood-based test for early detection of cancer, with the idea being that cancer is most curable when caught early. The CancerSEEK test screens for mutations in 16 genes and looks at eight different protein biomarkers. Looking at these biomarkers in combination allowed us to detect eight different cancers with an average sensitivity of approximately 70% and an overall specificity greater than 99%.
Q: Which cancer types does the test detect, and how has its sensitivity and specificity differed across these malignancies?
A: The eight cancer types that we tested this on were breast, ovarian, esophageal, stomach, liver, pancreatic, colorectal and lung cancers. The CancerSEEK test will detect a variety of cancers, but it was tested on these eight common deadly cancers. Median sensitivity was 70% for these eight cancer types, and this ranged from 33% for breast cancer to 98% for ovarian cancer. Importantly, the sensitivity of the test ranged from 69% to 98% for the detection of five of the common cancer types — ovarian, liver, stomach, pancreatic and esophageal — for which there are no screening tests available for those who are at average risk.
Q: What potential benefits may this test provide if its efficacy is confirmed?
A: The main benefit is that it is detecting cancers earlier, and this could have a tremendous impact on cancer mortality and morbidity. The earlier we detect the cancer, the better. For example, in ovarian cancer, 5-year OS for stage IV disease is around 25%, but 5-year OS for stage I disease is in the range of 90%. There is a tremendous benefit that can be gained if patients with stage IV disease can be caught at an earlier stage. This test allows us a window of opportunity to intervene, which can greatly benefit patients. In addition to detecting cancer with good accuracy, the other novelty of this test was that we were able to detect the origin of the cancer. This is very important from a clinical standpoint. When we have a test that is positive, there needs to be some sort of clinical actionable follow-up. To date, there has not been any other blood-based cancer screening test that can provide this information.
Q: What is the next step?
A: Ultimately, the reason to develop this test was to screen for eight different types of cancer, but also to extend this test to other cancer types. We trialed the test specifically on these eight types because they are the more common cancer types that constitute nearly 60% of cancer mortality cases in the United States. The test is still being developed, and it is important to note that the results we published need to be validated in a large-scale clinical trial looking at the asymptomatic health of these individuals so that we can see what the true sensitivity and specificity is in a more real-world situation. This is an important next step for us.
We have an ongoing study that is assessing this test for 10,000 healthy individuals. The next steps will be to validate these findings in a clinically relevant real-world setting. In addition, we are also looking to improve the test by revisiting some of the underlying technology that drives it. We also will continue to explore new biomarkers that could be combined with the gene mutations that we are looking at in the eight protein biomarkers that could potentially enhance the performance of the test. We hope to have substantial, long-term results within the next 5 to 10 years.
Q: Is there anything else that you would like to mention ?
A: We want to ensure that readers know we are not false advertising or overpromising the results of this study. We are very optimistic and excited by these early results, but we also caution that this is first step and more work is needed to validate these results. – by Jennifer Southall
Reference:
Cohen JD, et al. Science. 2018;doi:10.1126/science.aar3247.
For more information:
Joshua D. Cohen can be reached at Johns Hopkins University School of Medicine, 2024 E. Monument St., #2500, Baltimore, MD 21287.
Disclosures: Cohen reports no relevant financial disclosures. The research was supported by Lustgarten Foundation for Pancreatic Cancer Research, Virginia and D.K. Ludwig Fund for Cancer Research, The Commonwealth Fund, John Templeton Foundation, Clinomics Program, Mayo Clinic Center for Individualized Medicine, Mayo Clinic Biobank, Sol Goldman Center for Pancreatic Cancer Research, The Michael Rolfe Pancreatic Cancer Research Foundation, Benjamin Baker Scholarship, Gray Foundation, Early Detection Research Network, Susan Wojcicki and Dennis Troper, Marcus Foundation, Conrad N. Hilton Foundation, Howard Hughes Medical Institute, and the following NIH grants: P50-CA62924, P50-CA102701, CA06973, GM-07309 and U01CA152753.