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13 Cancers in One Blood Test — but 75% False Alarms
13 Cancers in One Blood Test — but 75% False Alarms

Medscape

time01-07-2025

  • 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.

Blood test can detect cancer 18 months before symptoms appear
Blood test can detect cancer 18 months before symptoms appear

Yahoo

time29-06-2025

  • Health
  • Yahoo

Blood test can detect cancer 18 months before symptoms appear

A new blood test means it is now possible to detect cancer up to 18 months before symptoms even appear. Test for Cancer has launched the HrC Genomics blood test, a non-invasive screening tool designed to spot cancer before it becomes symptomatic, reducing the need for invasive procedures like tissue biopsies. With cancer among the world's leading causes of death, early detection remains one of the most effective ways to improve outcomes. But many cancers are diagnosed too late, when treatment options are more limited and survival rates are lower. Test for Cancer says its new test can change that. By identifying specific stem cells that begin circulating when cancer is present, even before symptoms emerge, the HrC Genomics test offers a way to screen for cancer much earlier than standard approaches allow. READ MORE: Cardiologists name two foods that lower cholesterol 'just like statins' READ MORE: Neurologist says you can cut cholesterol, blood pressure and dementia risk in 20 minutes According to the organisation, these cells, known as pluripotent progenitor stem cells, can be detected in the blood as early as 12 to 18 months before any signs of illness. That early window gives patients and doctors more time to intervene and improves the chances of successful treatment. The test is available to adults of all ages and is not limited by gender or family history, making it a potentially powerful screening option for people who might not otherwise qualify for routine checks. Test for Cancer says its mission is to make early cancer detection more widely accessible, helping more people take control of their health and catch cancer before it advances.

Earliest signs of cancer can be found in the blood
Earliest signs of cancer can be found in the blood

The Independent

time17-06-2025

  • Health
  • The Independent

Earliest signs of cancer can be found in the blood

Scientists have developed a highly sensitive blood test that can detect cancerous tumours years before symptoms appear. The study, published in Cancer Discovery, found that genetic mutations caused by cancer can be detected in the blood up to three years in advance for some patients. Researchers from Johns Hopkins University analysed blood samples from a NIH-funded study, using genome sequencing techniques to identify tumour-related mutations. In a sample of 52 participants, the test accurately identified eight individuals who were diagnosed with cancer within four months, and detected tumour DNA in earlier samples of four of those individuals, collected three to three-and-a-half years prior to diagnosis. The findings suggest that multicancer early detection (MCED) tests could lead to more standardised blood screenings, boosting early detection and preventing treatment-resistant tumours, pending validation in larger trials.

Breakthrough blood test detects cancer years before symptoms appear
Breakthrough blood test detects cancer years before symptoms appear

The Independent

time17-06-2025

  • Health
  • The Independent

Breakthrough blood test detects cancer years before symptoms appear

Scientists have developed a 'highly sensitive' blood test that could detect signs of cancerous tumours years before the first symptoms appear, an advance that could lead to better treatment outcomes for patients. Researchers from the Johns Hopkins University in the US found that genetic material shed by tumours can be detected in the bloodstream much before patients get their first diagnosis. The study, published in the journal Cancer Discovery, found that these genetic mutations caused by cancer, can be detected in the blood over three years in advance for some patients. 'Three years earlier provides time for intervention. The tumours are likely to be much less advanced and more likely to be curable,' said study co-author Yuxuan Wang. In the research, scientists assessed blood plasma samples collected from participants of a large NIH-funded study to investigate risk factors for heart attack, stroke, heart failure and other cardiovascular diseases. Researchers developed highly accurate and sensitive genome sequencing techniques to analyse blood samples from 52 of the earlier study's participants. Twenty-six of the participants were diagnosed with cancer within six months after sample collection, and 26 who were not diagnosed served as the control group for comparison. Eight of the 52 participants scored positively in a multicancer early detection (MCED) laboratory test conducted at the time their blood samples were taken. The MCED test is designed to detect multiple cancers in their early stages from a single blood sample by analysing cancer-signature molecules in the blood, including DNA and proteins. All eight were diagnosed with cancer within four months following blood collection. For six of these 8 participants, additional blood samples were collected about 3 to 3.5 years before cancer diagnosis. In four of these cases, mutations linked to tumour growth could be identified in their earlier blood samples. The findings point to 'the promise of MCED tests in detecting cancers very early', researchers say. It may lead to more standardised blood tests to screen people either annually or every two years, which could boost early detection and prevent cancers from becoming treatment-resistant tumours. 'These results demonstrate that it is possible to detect circulating tumour DNA more than three years prior to clinical diagnosis, and provide benchmark sensitivities required for this purpose,' scientists wrote. 'Detecting cancers years before their clinical diagnosis could help provide management with a more favourable outcome,' said Nickolas Papadopoulos, another author of the study. Scientists hope the findings can be validated in a larger-scale trial involving more participants.

SeekInCare: New Multi-Omics Blood Test Shows Promise for Early Cancer Detection Across Multiple Cancer Types
SeekInCare: New Multi-Omics Blood Test Shows Promise for Early Cancer Detection Across Multiple Cancer Types

Yahoo

time26-05-2025

  • Health
  • Yahoo

SeekInCare: New Multi-Omics Blood Test Shows Promise for Early Cancer Detection Across Multiple Cancer Types

SAN DIEGO, May 26, 2025 /PRNewswire/ -- A groundbreaking study published in the Journal of Molecular Diagnostics reports the successful clinical validation of SeekInCare®, a novel, non-invasive multi-omics blood test designed for the early detection of multiple cancer types. Developed by researchers at SeekIn Inc., SeekInCare integrates advanced genomic, epigenetic, and proteomic analyses to identify cancer at its early stage, offering hope for improved outcomes through earlier intervention. Key Findings Comprehensive Cancer Detection: SeekInCare leverages shallow whole-genome sequencing of cell-free DNA (cfDNA) and measures seven protein tumor markers from 8ml peripheral blood. The test analyzes multiple cancer hallmarks, including copy number aberration, fragment size, end motif, and oncogenic virus, combined with artificial intelligence algorithms to distinguish cancer patients from non-cancer individuals and predict the likely tissue of origin. Robust Clinical Validation: In a retrospective study involving 617 cancer patients (across 27 cancer types) and 580 non-cancer individuals, SeekInCare achieved a sensitivity of 60.0% at 98.3% specificity, with an area under the curve (AUC) of 0.899. Sensitivities increased with cancer stage: 37.7% (stage I), 50.4% (stage II), 66.7% (stage III), and 78.1% (stage IV). Real-World Evidence: The test was further validated in a prospective cohort of 1,203 individuals, achieving 70.0% sensitivity at 95.2% specificity over a median follow-up of 753 days. Comparable to Leading Tests: SeekInCare's performance is on par with other multi-cancer early detection (MCED) tests currently in development, demonstrating its potential as a valuable tool for population-level cancer screening, especially in high-risk groups. Addressing Unmet Needs in Cancer Screening Despite advances in cancer therapeutics, most cancers are still diagnosed at advanced stages, where treatment is less effective. Traditional screening methods are limited to specific cancer types and often involve invasive procedures that can deter participation. SeekInCare's blood-based, multi-omics approach addresses these limitations by enabling non-invasive, broad-spectrum cancer detection from a single blood draw. "Our findings demonstrate that integrating multiple molecular signatures from blood can significantly enhance the sensitivity and specificity of early cancer detection," said Dr. Mao Mao, corresponding author and Founder & CEO at SeekIn Inc. "SeekInCare's robust performance in both retrospective and prospective cohorts supports its potential clinical utility as a screening tool, particularly for high-risk populations." The study was a collaborative effort involving leading hospitals in China. The publication can be found at About SeekInCare® With the mission to detect cancer while it is still curable, SeekInCare® has been developed as a pan-cancer detection test that takes a panoramic view of blood cell-free cancer signatures and a multi-omics approach incorporating genomic and epigenetic alterations in conjunction with clinically validated protein biomarkers. Equipped with proprietary AI- and big data-driven CRS algorithm, SeekInCare exhibits superior effectiveness to detect dozens of cancer types at high specificity. SeekInCare is intended for use in individuals with elevated risks of cancer such as smoking, chronic hepatitis, aging, etc., in conjunction with the approved conventional single-cancer type screening tests. SeekInCare received CE-IVD Mark in November 2021. About SeekIn SeekIn Inc. is a biotech company founded in early 2018 in Shenzhen, China, focusing on blood-based pan-cancer early detection utilizing next-generation sequencing and artificial intelligence. Since its creation, SeekIn has been committed to providing cutting-edge and cost-effective solutions for cancer early detection, postoperative recurrence monitoring, and treatment response evaluation. SeekIn has also developed novel molecular tests for leukemia patients and its cancer early detection technology has also successfully been applied to canines. With its proprietary technical advances, SeekIn has launched a number of research and clinical studies in collaboration with top-tier hospitals in China. SeekIn envisions that, by leading a new norm for cancer early detection, the clinical outcomes of mid-/late-stage cancer patients can be reversed, and the cancer mortality rate can be reduced by 15%. For more information about SeekIn's cutting-edge technologies and products, visit View original content: SOURCE SeekIn Inc Sign in to access your portfolio

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