Latest news with #MCED
South China Morning Post
12-07-2025
- Health
- South China Morning Post
How tests that detect cancer DNA fragments in blood can kickstart earlier treatment
Cancer doctor and researcher Siddhartha Mukherjee describes how surprised scientists were to discover DNA drifting freely in blood plasma almost 80 years ago. Advertisement 'The finding defied biological orthodoxy,' he writes in his Pulitzer Prize-winning 2010 book, The Emperor of All Maladies: A Biography of Cancer. 'DNA was thought to remain locked inside the nuclei of cells, and not float around on its own. Stranger still, these weren't whole genomes but broken pieces – genetic flotsam cast adrift from an unknown source.' That unknown source, it was later discovered, are genetic mutations and tumours, the fragments of which are known as circulating tumour DNA (ctDNA). CtDNA is seen in healthy individuals' blood too – due to normal cellular processes – but only at low levels. Higher ctDNA levels flag the likely presence of a tumour. This is why ctDNA tests are potentially so valuable as a diagnostic tool for cancer. Advertisement A study published in May by Johns Hopkins University in the US found that a new laboratory test in trial – multi-cancer early detection (MCED) – was able to identify ctDNA up to three years before traditional testing methods would have picked them up.
Medscape
11-07-2025
- Health
- Medscape
MCED Screening: What Patients Need to Know
With half a million people having already received multi-cancer early detection (MCED) screening, patients are and will continue to be asking about these blood tests during their visits, physicians say. During an Education Session at the American Society of Clinical Oncology (ASCO) 2025, several experts on these tests advised on how to approach these conversations with patients and described what they think is worth sharing about them. Front and center for the panelists of the session entitled, 'Multicancer Early Detection Testing: Are There Cures Without Costs?' Was that there are not yet any randomized clinical trial results showing that a positive MCED test result will actually decrease cancer mortality or even morbidity. 'We need to see trials that show something has changed for the better for the patient. Does it really move the needle for that patient, or are we just finding [the cancer] earlier?' said Jennifer Litton, MD, professor, vice president of clinical research, and interim chair of breast medical oncology at The University of Texas MD Anderson Cancer Center in Houston. 'Are we improving survival, improving treatment, or improving toxicity?' she asked, during her presentation in the session. Beyond the physical toxicity of treatments, there is also financial toxicity to consider. Although there are several MCED tests in the pipeline, GRAIL's Galleri test is the only one currently on the market. Studies of Galleri and other MCED tests still in development have so far shown that these blood-based screenings can, indeed, detect circulating tumor DNA (ctDNA) in patients who are asymptomatic, often suggesting cancer long before regular screening tests confirm it. But, thus far, there is no evidence that earlier detection saves lives, or can allow for less aggressive treatment. While Carmen Estela Guerra, MD, the chair of the session, acknowledged that clinicians are not obligated to initiate discussions about MCEDs until more is known about their effectiveness, as guidance from the American Cancer Society states, she provided starting points and resources for discussing these tests with patients. 'It's really important…to understand that patients may hear about Galleri tests, as will primary care physicians that might consult with us. And so we have to consider…that once people approach us, patients, primary care clinicians, that we really take this opportunity…to make sure that patients are up to date with evidence-based cancer screenings, whatever cancer screenings are appropriate for their age, sex, family history, tobacco history, and other risk factors,' said Guerra at the meeting. She added that if patients inquire about MCEDs, clinicians first want to determine if they are even eligible for testing. Guerra, who is professor of medicine at the University of Pennsylvania, and a general internist and cancer equity researcher at the Abramson Cancer Center, both in Philadelphia, also provided answers to several other questions patients may ask about the Galleri and other MCED tests during her presentation. Who is Eligible to Receive the Galleri Test? According to the Galleri website, anyone older than 50 years is eligible to receive these tests. 'Some experts have said that perhaps other people who might be eligible are those with family histories or personal histories of cancer in the past. And then, perhaps, even people with known genetic mutations, who are at risk for multiple cancers, may be eligible individuals,' Guerra said. 'Again, this is expert opinion. And you may read about these potential eligibility [criteria]. But the truth is, we just don't know yet.' Who Can't Receive This Screening? 'Some people have proposed pediatric populations, pregnant individuals, and patients who have had a cancer diagnosis within the past 3 years are not eligible for MCED testing,' Guerra said. 'In fact, they were excluded from the [ongoing] NHS-Galleri study.' An MCED consortium was created, which was a private, public partnership between the MCED companies, the American Cancer Society, and many other experts. This provided a list of additional risk factors 'that, perhaps in the future, may also help us identify who is a potential candidate for MCED testing,' she continued. That list, which was published in an article in JCO Precision Oncology in November 2021, includes: Using alcohol Having been exposed to cancer-causing substances (eg, fire smoke, tobacco smoke, radiation, and sunlight) Being immunosuppressed Having been exposed to infectious agents (eg, viruses and parasites) Having Overweight/Obesity Using Tobacco How to Approach Discussions With Patients and Clinicians One of the approaches that's being adapted to clinicians discussing MCEDs with patients and other clinicians is the shared decision framework, Guerra explained. That shared decision framework emphasizes that MCEDs are not replacements for evidence-based cancer screening, but that they could be additive in some cases, she said. The shared decision model is a talk model approach. 'It starts with the option or choice talk. And that's about basic education about MCEDs, what they detect, who is eligible, which tests are available, and how much does it cost,' she said. The option talk involves addressing what the potential benefits and harms are, the likelihood of harm, interpretation of the tests, test uncertainties, and the option of not testing at all, Guerra continued. Finally, to follow this model, clinicians help patients decide whether to have the testing. Part of this includes recognizing that 'some patients, after hearing all this, may not want to have the test. And that's OK, too,' she said. Guerrera also pointed out that other option- and decision-related talk points for approaching these conversations were published in April in the American Society of Clinical Oncology Education Book . She and her colleagues coauthored this article. One example of a 'decision talk' point in the article aimed at answering how to decide whether to have these tests is that 'MCED tests are not a recommended part of your routine cancer screening at this time.' Another is: 'If you are unsure about getting tested, it may be best to wait. We can always revisit your decisions as more information becomes available.' What are the Advantages and Disadvantages of the Tests? During her presentation, Guerra also described some of the advantages and disadvantages to MCED screening that clinicians could speak about with their patients. 'The advantages are, obviously, that screening can occur for multiple cancers at the same time, and that MCEDs can detect cancers [for which we currently don't have a modality], and that MCEDs have increased positive predictive value compared to single cancer screening tests,' she said. 'But you can see there's a lot of potential disadvantages, at the moment. Much of this is because we don't have information to inform our patients, including that patients should know that MCEDs are not currently covered by insurance,' Guerra continued. 'In addition, there's no consensus or guidelines for who should be tested and what the best testing pathway is for a positive MCED. That even if they have a 'no cancer signal' detected, it does not rule out future cancer diagnoses.' With these tests, 'consequential cancers could be found early, but the patient may not live longer because of overdiagnosis,' she said. More potential disadvantages to these tests, which Guerra included in a slide for her presentation, included: Possible harm from unnecessary diagnostic procedures due to false positives or missed diagnoses due to false negatives Overdiagnosis and overtreatment of cancers that would have otherwise never bothered a patient Increased inequities if tests are not widely available, affordable, and acceptable to minority groups What's Missing and What to Offer Patients Who Want an MCED Test? 'One of the things that's really missing to guide clinicians right now is what to do with those positive cancer signals. And there is no document that has some guidance for any of us, or even our oncologists because many clinicians, primary care clinicians, will refer those patients to oncologists,' Guerra said. 'Given the uncertainties about MCEDs, one of the options that we might offer our patients that want to have an MCED is a recommendation to enroll [in one of the MCED studies], where they will be tracked as part of the clinical trial, and where outcomes will be evaluated and inform future practice.' Among these trials is the Vanguard study, a National Cancer Institute study that is being designed across nine geographical areas, that will enroll 24,000 participants in the US. The first two tests that will be used in this trial are Shield and Avantect, and others may be used as well, according to Guerra. The objective of the Vanguard study is to determine if patients will be willing to even be randomized to this study and determine adherence and feasibility questions about the study, that will later inform a larger study, she said. Another trial patients can enroll in is the REACH initiative, which is a collaboration between Grail and Medicare that will prospectively look at 50,000 Medicare beneficiaries to compare patients receiving usual care with those receiving the Galleri test. The investigators for this study 'will try to answer questions about whether there are reduced diagnoses of late stage, stage IV, and the safety and healthcare utilization,' Guerra said. This is a 3-year study across 50 sites that was initiated about 2 years ago. More Information About Galleri The Galleri test has a list price of $949 and is available only by prescription. It's designed to flag the possibility of up to 50 different cancers by detecting ctDNA in a blood sample. Because Galleri is not approved by the FDA, most insurance would not cover it or any follow-ups prompted by a positive result, according to the American Cancer Society. GRAIL has applied for Breakthrough Device Designation and Pre-Market Approval for Galleri. The company is currently authorized to perform the test at its laboratory, which is certified by the Centers for Medicare & Medicaid Services under the Clinical Laboratory Improvement Amendments of 1988. Litton disclosed financial relationships with UpToDate, Physicans' Education Resource, Merck, Pfizer, and Certis. Guerra reported financial relationships with BEAM Therapeutics, Crispr Therapeutics, Editas Medicine, Intellia Therapeutics, National Comprehensive Cancer Network, GlaxoSmithKline, Guardant Health, Impulse, Natera, Roche, Janssen, and Genentech. Kate Johnson contributed to this report.
Medscape
01-07-2025
- Health
- Medscape
13 Cancers in One Blood Test — but 75% False Alarms
A prospective cohort study led by Yang Shao, PhD, president and CEO of Geneseeq Technology Inc. and professor at Nanjing Medical University, Nanjing, published in Nature Medicine , on a blood test capable of simultaneously detecting 13 types of cancer. The test demonstrated high sensitivity and specificity and was able to identify early-stage cancers that often go unnoticed during routine screenings. Traditional cancer screening methods are often invasive, expensive, and time-consuming, which can reduce patient adherence. In addition, several cancers — such as pancreatic cancer — are typically asymptomatic in their early stages and progress rapidly, with no established screening protocols currently available. This prompted the development of less invasive approaches, such as multi-cancer early detection (MCED) blood tests that can detect a cancer signal from circulating cell-free DNA. These simple blood tests analyze plasma cell-free DNA using genetic and fragmentomic-based features from whole genome sequencing to simultaneously detect multiple cancer types. Although promising, current MCED tests still have relatively low sensitivity, typically less than 60%. Experts, including those from the American Cancer Society, cautioned that widespread use could create a false sense of reassurance and potentially deter patients from following up with standard screenings. Researchers have developed an MCED blood test that detects 13 cancers: breast, cervical, colorectal, endometrial, esophageal, gastric, liver, lung, ovarian, pancreatic, prostate, biliary tract, and lymphoma. These cancers account for 66.6% of all new cases and 74% of cancer-related deaths worldwide. The test uses two main classifiers: the detection-of-cancer classifier, tasked with confirming the presence of cancer, and the tissue-of-origin classifier, responsible for pinpointing the primary site of malignancy by analyzing and integrating feature frameworks, including copy number variations, fragment size coverage, fragment size distribution, nucleosome footprint, and fragment-based methylation. To develop the test, researchers analyzed 6553 blood samples, 3076 from patients with cancer and 3477 from healthy individuals, divided into a training dataset of 4807 samples and an internal validation dataset of 1746 samples. Independent validation was performed using a prospectively enrolled cohort of 1465 participants in an age-matched fashion, comprising 732 patients with cancer and 733 non-cancer individuals between April and November 2021. In the third ongoing phase, 3724 asymptomatic adults aged 45-75 years in the Jinling cohort underwent both complete physical examinations and the MCED test in June 2023. Positive Results In independent validation, the MCED test showed an overall sensitivity of 87.4% and specificity of 97.8%. The sensitivity was particularly high for certain cancer types, such as 100% for liver and biliary tract cancer, 94.5% for lung cancer, and 82.3% for colorectal cancer. Even cancers that are difficult to diagnose early, such as pancreatic and ovarian cancers, showed a sensitivity of 76.9% for pancreatic cancer and 90.5% for ovarian cancer. Breast cancer had the lowest sensitivity at 63.8%. The test was effective in detecting early-stage disease, with a sensitivity of 79.3% for stage I and 86.9% for stage II cancer. This increased to 92.4% for stage III and 97.1% for stage IV. When considering the top two tissue origin predictions, the accuracy increased to 90.7% for the internal set and 91.7% for the independent set. It performed best in identifying cancers of the colon-rectum, lungs, and liver but was less accurate for pancreatic and stomach cancers, correctly identifying the origin in 50% or fewer cases. In a prospective screening cohort of asymptomatic individuals, the MCED test identified 23 of 43 cancer cases within 1 year, with an overall sensitivity of 53.5%. When limited to the 13 cancers that the test was designed to detect, the sensitivity increased to 62.1%. Most of these cases (93%) were early-stage cancers (stage 0, I, or II). The specificity remained high at 98.1%, with a positive predictive value (PPV) of 25% and a negative predictive value of 99.4%. Notably, 8 of the 23 positive patients who received a positive MCED result had their cancers undetected through physical examination, and 4 had cancers for which there is currently no recommended screening, highlighting the potential of the MCED test to effectively detect cancers that would otherwise have gone undetected. 'Our study demonstrated high sensitivity, highlighting our classifier's ability to detect cancer cases, even in populations with lower disease prevalence. This underscores the capacity of our classifier to effectively detect incident cancer cases under real-world screening conditions, facilitated by comprehensive physical examinations,' the authors concluded. These findings suggest that the MCED test could be a valuable complement to existing screening methods, particularly for cancers without routine early detection tools. The ability to detect early-stage pancreatic and ovarian cancers is particularly promising. However, broader validation across diverse populations, cost-effectiveness analyses, and studies on the psychological impact of screening outcomes are critical before widespread clinical implementation. One key limitation was that the PPV achieved was 25% for the MCED test, which was lower than the 38% reported in the PATHFINDER study published in 2023. 'The PATHFINDER trial enrolled participants with a higher cancer prevalence and utilized the MCED test results to trigger diagnostic workup, systematically investigating participants with positive test results, thus inherently enriching their cohort for cancer diagnoses within the workup pathway. Conversely, the Jinling study adopted a standardized comprehensive physical examination for all participants as the primary screening modality, independent of MCED test outcomes and within the context of lower cancer prevalence,' the researchers noted. However, the absolute number of false positives in the Jinling study was low (20 of 3724 participants, or 0.54%). False-positive results can lead to unnecessary anxiety, further invasive diagnostic procedures, and potentially inappropriate treatment for patients. The researchers emphasized the need to improve the sensitivity of the MCED test for very early-stage cancers while reducing false positives.
Yahoo
22-06-2025
- Health
- Yahoo
Early Signs of Cancer Found in Patient Blood 3 Years Before Diagnosis
Spotting cancer early can significantly improve the chances of recovery, and US researchers have shown that blood biomarkers may reveal tumors more than three years before a diagnosis is made. The key lies in tiny fragments of genetic material shed by tumors. If a suitable analysis detecting these DNA signatures in the bloodstream can be rolled out at scale, it means a reliable way of catching cancer much earlier. "Three years earlier provides time for intervention," says Yuxuan Wang, an oncology researcher at Johns Hopkins University in Maryland. "The tumors are likely to be much less advanced and more likely to be curable." The team analyzed blood samples from 26 participants in a wider health study, who were diagnosed with cancer within six months of the sample collection. These samples were compared with blood taken from 26 other individuals who didn't develop cancer. Technically, the test looked for circulating tumor DNA, or ctDNA. Using a combination of algorithms and multiple cross-checks, modifications known to be linked to tumors can be spotted, even though they're rare. For eight of the 52 study participants, cancer was flagged by the multi-cancer early detection (MCED) test put together by the researchers – that means nearly 31 percent of those who got cancer were picked up by the blood analysis. Older samples from 3.1-3.5 years earlier were available for six of those eight people, and of those six, cancer could be detected in four individuals. The same DNA fragments from tumors had already begun to appear, being found at levels up to nearly 80 times lower than those detected by the MCED test. However, there's still plenty of work to be done. The further the samples go back in time, the lower the levels of detectable ctDNA: if we're to spot cancer up to three years in advance, much more sensitive blood tests need to be developed. "This study shows the promise of MCED tests in detecting cancers very early, and sets the benchmark sensitivities required for their success," says Bert Vogelstein, an oncology researcher at the Ludwig Center at Johns Hopkins. Scientists are doing fantastic work at identifying ways to spot cancer early, including through blood tests. However, getting them successfully through trials and approved by regulators remains a challenge. Even with the hurdles ahead, there are reasons for optimism: each new study showing early cancer diagnosis adds to our overall knowledge and understanding of how cancer gets started, and how it can be identified at earlier stages. Add to that the progress that's being made in terms of cancer treatments – including treatments capable of attacking multiple cancer types – and there are good reasons to believe that survival rates can continue to rise. "Detecting cancers years before their clinical diagnosis could help provide management with a more favorable outcome," says Nickolas Papadopoulos, an oncology researcher at the Ludwig Center. "Of course, we need to determine the appropriate clinical follow-up after a positive test for such cancers." The research has been published in Cancer Discovery. Fecal Transplants Present a Concerning Risk For Some, Study Finds Cognitive Shuffling Really Could Help Insomniacs Get to Sleep Your Brain Emits a Secret Light That Scientists Are Trying to Read
Time of India
20-06-2025
- Health
- Time of India
Cancer could be detected 3 years before symptoms appear with a simple blood test; new study reveals
One of the leading causes of death in recent years, cancer, is claiming to take millions of lives each year. Despite the significant advancements in the treatment, the biggest challenge in fighting cancer is that the detection is often too late. Detecting cancer earlier may dramatically improve survival rates and offer more treatment options. But, this is yet harder to diagnose at the earliest stage and is one of the crucial reasons for rising deaths worldwide. Now, a new study by Johns Hopkins University researchers suggests that a simple blood test could help identify cancer years before symptoms even begin to show, potentially transforming the future of early diagnosis and prevention. According to the study published in the peer-reviewed journal Cancer Discovery , this breakthrough might be a push in early diagnosis of cancer. A simple blood test may detect cancer early, before any symptoms start Cancer outcomes are heavily dependent on how early the disease is detected. When tumours are caught in their initial stages, they tend to be smaller, less aggressive, and more responsive to treatment. As researcher Yuxuan Wang from Johns Hopkins explains, 'Three years earlier provides time for intervention. The tumours are likely to be much less advanced and more likely to be curable.' This time advantage could make the difference between curable and life-threatening cancer, especially in aggressive forms of the disease. At the heart of the research is a type of genetic material called circulating tumour DNA (ctDNA). Tumours naturally shed fragments of their DNA into the bloodstream, but these traces are extremely minute and hard to detect, especially in the early stages. Science behind detecting cancer in blood To identify these fragments, scientists used multi-step algorithms and cross-checks to scan blood samples for modifications in DNA patterns that are commonly linked to tumours. The technique forms the basis of a Multi-Cancer Early Detection (MCED) test, designed to look for cancer-specific genetic changes in the blood. The research team analysed blood samples from 52 individuals, split into two groups: 26 people who were later diagnosed with cancer within six months of sample collection. 26 people who remained cancer-free. When subjected to the MCED test , eight cancer cases were flagged, indicating a 31% detection rate. While not perfect, this detection occurred before any formal diagnosis or visible symptoms appeared. Testing the method: What the study revealed What makes the findings even more groundbreaking is the analysis of older blood samples from some of the participants. Six of the eight individuals who were detected by the MCED test had blood samples available from 3.1 to 3.5 years before their diagnosis. Amazingly, cancer signals were found in four of those six samples. The ctDNA was present, although at levels up to 80 times lower than what the current test threshold requires. This suggests that tumours begin shedding DNA into the blood long before symptoms arise. if the tests are sensitive enough, these early signs could be caught. While the results are promising, they also highlight a key hurdle that the current technology needs to improve its sensitivity. The earlier the stage of cancer, the lower the ctDNA levels, making detection difficult. 'This study shows the promise of MCED tests in detecting cancers very early,' says Dr. Bert Vogelstein, a senior cancer researcher involved in the project. 'But it also sets the benchmark sensitivities required for these tests to succeed.' In simpler terms, we now know what we should aim for—but we're not quite there yet. What happens after a positive cancer blood test Even though the science is encouraging, moving from lab to the clinic is not straightforward. Blood-based cancer screening tests must undergo rigorous clinical trials to prove their reliability and safety. Once proven effective, they still require regulatory approvals before being adopted into regular medical practice. There's also the question of what comes after a positive test. Dr. Nickolas Papadopoulos from the Ludwig Centre notes, 'We need to determine the appropriate clinical follow-up after a positive test result. That includes further scans, biopsies, or even preventive treatments.' Despite the current limitations, this research represents a hopeful shift in cancer diagnostics. Combined with ongoing advances in treatment, especially therapies targeting multiple cancer types, the future holds the potential for significantly improved survival rates. This could mark a revolutionary step forward in how cancer is screened and treated. Also Read | 10 common monsoon diseases that might cause serious health problems; know symptoms and how to protect yourself One step to a healthier you—join Times Health+ Yoga and feel the change
