Latest news with #bloodtest
Yahoo
5 days ago
- Health
- Yahoo
University of Melbourne team develops blood test for genetic disease detection
A team at the University of Melbourne in Australia has developed a new blood test for the diagnosis of rare genetic diseases in babies and children. This test, created in collaboration with Murdoch Children's Research Institute, has the potential to replace costly and invasive procedures. According to new research, this test can identify up to 50% of all known rare genetic diseases rapidly. It can assess the pathogenicity of several gene mutations at once without needing to conduct several other functional tests. University of Melbourne associate professor David Stroud said: 'If our blood test can provide clinical diagnoses for even half of the 50% of patients who don't get a diagnosis through genome sequencing, that's a significant outcome as it means those patients don't have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn't come without risks.' The research team compared their blood test to a clinically accredited enzyme test from the Victorian Clinical Genetics Services at MCRI, focusing on mitochondrial diseases. These disorders severely impact energy production in cells, leading to organ dysfunction or failure. The new test demonstrated higher sensitivity and accuracy, delivering faster results than the existing method. The researchers have also received an A$3m ($1.9m) grant from the Australian Government's Medical Research Future Fund. This funding will aid them in recruiting 300 patients with various genetic disorders into a study to assess the diagnostic test. The institute said the blood test will be offered as a diagnostic service by the Victorian Clinical Genetics Services in the future. "University of Melbourne team develops blood test for genetic disease detection" was originally created and published by Medical Device Network, a GlobalData owned brand. The information on this site has been included in good faith for general informational purposes only. It is not intended to amount to advice on which you should rely, and we give no representation, warranty or guarantee, whether express or implied as to its accuracy or completeness. You must obtain professional or specialist advice before taking, or refraining from, any action on the basis of the content on our site. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Forbes
6 days ago
- Health
- Forbes
Breakthrough Alzheimer's Blood Test Explained By Neurologists
Whether you're noticing changes in your memory that are affecting your daily life, caring for a loved one recently diagnosed with dementia, evaluating a patient as a physician, or simply worried about someone close to you, the recent FDA clearance of the Lumipulse blood test for the early diagnosis of Alzheimer's disease is a significant development that you should be aware of. Here's what you need to know about this Breakthrough Alzheimer's blood test. The Lumipulse G pTau217/β-Amyloid 1-42 Plasma Ratio test is designed for the early detection of amyloid plaques associated with Alzheimer's disease in adults aged 55 years and older who are showing signs and symptoms of the condition. If you've witnessed a loved one gradually lose their memories due to the impact of amyloid plaques in their brain, you understand how important a test like this can be. The Lumipulse test measures the levels of two proteins—pTau 217 and β-Amyloid 1-42—in plasma and calculates the ratio between them. This ratio is correlated with the presence or absence of amyloid plaques in the brain, potentially reducing the need for more invasive procedures like PET scans or spinal fluid analysis. Dr. Phillipe Douyon, a neurologist and author of '7 Things You Should Be Doing to Minimize Your Risk of Dementia,' notes that the Alzheimer's Association has reported that 50-70% of symptomatic patients in community settings are inaccurately diagnosed with Alzheimer's disease. In specialized memory clinics, this misdiagnosis rate drops to 25-30%. 'Having a test that provides early and accurate insights into the cause of someone's dementia could be a massive game changer,' says Dr. Douyon. This new test follows the recent FDA approval of two medications, lecanemab and donanemab, which are highly effective in removing amyloid from the brain. Clinical trials have shown that these treatments can slow the progression of dementia. Currently, to qualify for these medications, patients must undergo expensive examinations, such as a brain amyloid PET scan or a lumbar puncture to analyze their spinal fluid. Many patients, however, do not have access to PET imaging or specialist care. 'A blood test makes diagnostic procedures more accessible and benefits underserved populations,' says Dr. Haythum Tayeb, a neurologist at WMCHealth. 'It also enables earlier and more personalized care planning, even before formal treatment begins. This empowers patients and their families to make informed decisions sooner,' Dr. Tayeb adds. While this blood test may improve access to care for patients from communities lacking neurology and other specialty services, it is recommended to use it only for individuals experiencing memory problems, rather than for those who are asymptomatic. 'Given that there is no specific treatment indicated for asymptomatic persons, there is a risk of introducing psychological harm at this stage,' warns Dr. James Noble who is Professor of Neurology at Columbia University Irving Medical Center and author of Navigating Life With Dementia. 'Healthy approaches to lifestyle will remain central in adulthood whether or not someone has a positive test, and that advice will not really change,' adds Dr. Noble. Living a healthy lifestyle can significantly enhance brain health, regardless of whether a person has an abnormal accumulation of amyloid in their brain. Key factors include regular exercise, following a healthy diet such as the Mediterranean diet, getting adequate sleep, engaging in social and cognitive activities. These practices are all essential for maintaining cognitive function. Additionally, taking steps to protect your hearing may help reduce the risk of developing dementia. Anyone experiencing memory loss should consult their medical provider for an evaluation. The provider can conduct basic cognitive testing and determine if a referral to a specialist is necessary. If the individual meets the criteria for testing, the lumipulse blood test should also be considered. 'Looking across the wide landscape of medicine, many other conditions benefit from early detection, diagnosis, and treatment. There is no reason to believe that Alzheimer's disease will be any different' says Dr. Noble. Indeed, screening for diseases like colon cancer, breast cancer, and high blood pressure has significantly extended the average American lifespan. Imagine how much our lives could change if we could screen for Alzheimer's dementia in the same way. This would be particularly useful for patients at higher risk due to age or family history. Providing earlier intervention for Alzheimer's disease could potentially reduce amyloid buildup in the brain, help preserve memories, and allow individuals to live more independently at home, rather than in nursing homes. Another advantage of using a blood test like the Lumipulse blood test is the ability to inform a patient that their memory loss is unlikely to be due to Alzheimer's disease. While a negative blood test does not entirely rule out an Alzheimer's diagnosis, it does make it less probable. This could prompt the medical provider to conduct further testing to identify a more accurate cause for the patient's memory loss. It is reasonable to anticipate that additional blood-based biomarkers for diagnosing Alzheimer's disease and other dementias will be available in the future. Perhaps one day, there will be a dementia panel blood test that can be sent off to provide early diagnosis of a wide range of dementias. Alzheimer's blood testing is not only beneficial for individuals, but it also represents a significant advancement for research. Doctors and scientists can more easily identify individuals in the early stages of Alzheimer's disease, which accelerates clinical trials for new medications. This increased diagnostic accuracy can enhance the effectiveness of Alzheimer's clinical trials, as it ensures that patients enrolled have more reliable diagnoses. Consequently, new and more effective treatments could be developed and made available more quickly. The Lumipulse Alzheimer's blood test marks a pivotal moment in our approach to this disease. While patients may still need confirmatory testing through brain imaging or spinal fluid analysis, this blood test enables the medical community to adopt a more proactive, precise, and personalized strategy for diagnosing and treating patients with dementia. This simple blood test brings us one step closer to earlier answers, better care, and renewed hope for millions of people facing the uncertainty of dementia.
Yahoo
24-05-2025
- Health
- Yahoo
Scientists develop breakthrough blood test for rare genetic disorders in children
In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can accurately diagnose rare genetic diseases in infants and children, potentially within days. The new test could spare families from months or even years of uncertainty, replacing costly, invasive procedures like muscle biopsies with a single, comprehensive diagnostic tool. While genome sequencing has transformed the landscape of rare disease detection, it still fails to deliver answers in about half of all cases. The new blood test bridges this diagnostic gap by assessing the pathogenicity of thousands of gene mutations at once, dramatically accelerating the path to treatment and hope for affected families. Researchers say the new blood test can rapidly detect abnormalities in up to 50 percent of all known rare genetic diseases. 'If our blood test can provide clinical diagnoses for even half of the 50 percent of patients who don't get a diagnosis through genome sequencing, that's a significant outcome as it means those patients don't have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn't come without risks,' University of Melbourne Associate Professor David Stroud said in a release. Murdoch Children's Research Institute Professor David Thorburn said that by providing patients and their families with a rapid clinical diagnosis, the chances of survival increased, as treatment, if available, could begin much sooner. "Even in cases where a child has died from an undiagnosed genetic disease, this new test can be carried out on tissue samples to determine the genetic mutation responsible for their death. Such diagnoses not only provide closure to families, but this information can also be used in IVF to help the parents to have future children who have not inherited the life-threatening disease,' Thorburn said. The research team reportedly benchmarked their new test against an existing clinically accredited enzyme test provided by the Victorian Clinical Genetics Services at MCRI, with a focus on mitochondrial diseases—a group of severe and rare disorders that deplete the body's cells of energy, potentially leading to organ dysfunction or failure, and even death. They found that, in comparison, their new test was more effective in confirming a mitochondrial disease diagnosis, being significantly more sensitive, accurate, and capable of delivering faster results. 'A recent health economics analysis in collaboration with the Melbourne School of Population and Global Health showed that our test could be offered at a similar cost to the enzyme test that is currently offered clinically for mitochondrial diseases, but our test is much more cost-effective as it can test for thousands of different genetic diseases, whereas other functional tests are mostly targeted to a small number of genetic disorders,' Dr Daniella Hock said. "Thanks to a $3 million Australian Government Medical Research Future Fund grant, researchers are now in the process of recruiting 300 patients with a range of different genetic disorders to participate in a study to investigate the broad utility of their diagnostic test," he added. It is expected that the test will eventually be offered as a diagnostic service through the Victorian Clinical Genetic Services. The new research has been published in the journal Genome Medicine.
The Guardian
23-05-2025
- Health
- The Guardian
Blood test developed that could speed up diagnosis of rare diseases in babies
A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner. Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous. 'In most cases people suspected of a rare disease undergo genomic testing, which revolutionised their diagnosis, but typically only leads to a diagnosis about 50% of the time,' said Dr David Stroud, the co-author of the study from the University of Melbourne. 'Those that don't receive a diagnosis from genomic testing often undergo a long 'diagnostic odyssey' of months to years where they undergo myriad other tests in an effort to interpret which of the many genetic changes detected in genomic testing are causing the disease,' he added. 'Some of these tests are very invasive, needing for example muscle biopsies, which in children requires general aesthetic, which has its own risks.' Writing in the journal Genome Medicine, Stroud and colleagues report how they sought to supplement genetic testing with another approach: examining the myriad proteins found within certain types of blood cells taken from a patient, and comparing them against those found in healthy people. 'Since genes are the instructions to make proteins, we then use this information to understand which of the thousands of changes in many different genes detected in a patient are leading to a damaged protein and which are benign,' said Stroud. The team say the approach means the effects of many different genetic mutations can be analysed at once and yield results in as little as three days. Among other results the researchers found the new approach outperformed current gold-standard tests for mitochondrial diseases that are used alongside genetic testing, and enabled the diagnosis of diseases where genomic testing alone had been unable to do so. 'Genomics is the frontline test and it can solve the diagnosis in about 30-50% of patients suspected of a rare disease. We think a single proteomic test can increase that diagnostic yield to 50-70% of suspected patients,' said Prof David Thorburn, another author of the research from the University of Melbourne. While the study focuses on using the test for mitochondrial diseases, Stroud said it was already applicable to about half of the 7,000 known rare diseases, although more work is needed to demonstrate this. Stroud added that for mitochondrial diseases as little as 1ml of blood from a newborn is required for the procedure, whereas current techniques involve a muscle biopsy. Furthermore, while a mitochondria-focused version of the test has a similar cost to current techniques, it is not specific to one kind of rare disease. That not only makes it more cost effective but, as Stroud noted, it also means patients could avoid having to take other unnecessary tests. 'This has obvious benefits to both the patient and healthcare system,' he said. A diagnosis not only sheds light on the disease, and – in some cases – possible treatments. It also helps parents who are considering having further children by raising the possibility of pre-natal genetic testing. Michal Minczuk, a professor of mitochondrial genetics, at the University of Cambridge, and who was not involved in the study, welcomed the research. 'Overall, the paper marks a very significant step forward in diagnostic practices by introducing a robust, rapid, and minimally invasive method for confirming and characterising genetic disorders,' he said. 'This could greatly enhance patient care by expanding the tools available for clinicians and researchers in genomic medicine.'
Medical News Today
22-05-2025
- Health
- Medical News Today
FDA clears first blood test for Alzheimer's: How does it work?
The FDA has cleared the first blood test to diagnose Alzheimer's disease. Bowery Image Group Inc./Stocksy The earlier Alzheimer's disease can be diagnosed, the better the outcomes; however, it can be hard to diagnose the disease in its earliest stages. The United States Food and Drug Administration recently cleared the first blood test to help diagnose Alzheimer's disease. The new test measures the amount of proteins amyloid-beta and tau in the blood, and is less invasive than the currently used spinal tap to measure levels of these proteins in cerebrospinal fluid. Like all diseases, the sooner Alzheimer's disease is diagnosed, the better the outcome. This is partially because medications available for the condition aim to treat symptoms and potentially slow the progression of the disease. Despite all these tools, it can be hard to diagnose Alzheimer's disease, especially at its earliest stage . According to the FDA's press release , the Lumipulse blood test works by measuring the amount of pTau 217 and beta-amyloid 1-42 in the plasma of the blood. The concentration ratio of the two proteins is used to determine the presence or absence of amyloid plaques in the brain, which is considered a hallmark of Alzheimer's disease. 'Imagine your brain is like an organized library, with information neatly stored on shelves (neurons),' Manisha Parulekar, MD, FACP, AGSF, CMD, director of the Division of Geriatrics at Hackensack University Medical Center and co-director of the Center for Memory Loss and Brain Health at Hackensack University Medical Center in New Jersey explained to Medical News Today. 'In Alzheimer's disease, two troublesome proteins, beta-amyloid and tau, disrupt this organization, making it hard to access the information.' 'Think of beta-amyloid as sticky notes that clump together between the bookshelves (outside the neurons),' Parulekar continued. 'These clumps, called plaques, interfere with communication between the neurons, like blocking pathways in the library. Tau is normally like a librarian, helping to keep the bookshelves (internal neuron structure) stable and organized. In Alzheimer's, tau becomes twisted and tangled. These tangles disrupt the transport of nutrients and other essential materials within the neurons, eventually leading to their death,' she said. 'In simple terms, this blood test helps identify the 'culprits' responsible for Alzheimer's damage, allowing for earlier diagnosis, better disease management, and faster development of effective treatments.' — Manisha Parulekar, MD, FACP, AGSF, CMD Up until now, the main laboratory test to check levels of amyloid-beta and tau proteins was by examining a sample of a person's cerebrospinal fluid (CSF). The sample is taken through a lumbar puncture — also known as a spinal tap — where a needle is inserted into a person's lower spine. Gediminas Gliebus, MD, director of cognitive and behavioral neurology at Marcus Neuroscience Institute, a part of Baptist Health South Florida, told MNT having a test requiring a blood sample instead of a CSF sample significantly simplifies the testing process, eliminating the need for invasive and costly procedures like lumbar punctures, which can deter some patients from seeking evaluation. 'By relying on a simple blood sample, this test makes it more accessible to a broader population, facilitating earlier diagnosis and enabling timely interventions that could help manage the progression of the disease. This new test has the potential to change how we diagnose Alzheimer's disease by streamlining the process and reducing the need for more invasive procedures.' — Gediminas Gliebus, MD 'Based on the scientific data provided by the company, only 20% of patients would require additional invasive and costly tests, such as lumbar punctures or PET scans, to confirm the diagnosis. This is a significant improvement, as it allows the majority of patients to receive a preliminary evaluation with minimal discomfort and expense, fostering early detection and intervention,' Gliebus explained. As part of their approval announcement, the FDA stated risks associated with the Lumipulse blood test include both false positive and negative results. For that reason, all of the experts we spoke with agree that while this new test is a promising diagnostic tool, it is not the only tool that should be used and more research is still needed. 'This test has potential for use in pre-screening participants in clinical trials for early stages of Alzheimer's disease, however, its application in primary care settings is not yet fully understood, and further research is needed before it is used as a screening tool for the general population,' Bhavana Patel, DO, assistant professor of neurology at the University of Florida explained to MNT . Things to keep in mind about the test 'As with many tests, false positives and false negatives can occur. Therefore, this test should be done in the setting of cognitive symptoms and with a specialist who can accurately interpret and counsel on the results.' — Bhavana Patel, DO, 'My first response to this blood test is concern (that) primary care physicians are going to diagnose patients with Alzheimer's dementia from a blood test who have no memory loss or risk factors for dementia,' added Clifford Segil, DO a neurologist in private practice in Santa Monica, CA, and on staff at Providence St John's Health Center. 'And tests like this, which were not approved by the typical rigorous FDA pathway, but rather through an abbreviated process via the FDA's ' Breakthrough Pathway ,' which cause me concern countless people are going to be told they have dementia per a blood test when they do not have dementia,' he said. 'Neurologists in clinical practice have found similar tau and amyloid biomarkers to have a high percentage of false positives in clinical practice and do not rely only on a blood test to diagnose a family member or you with dementia,' Segil told MNT . 'Neurologists are unlikely to use these tests, which will be used by primary care physicians. If you do get a positive result from a blood tau or amyloid test, please be evaluated by a neurologist to determine if they have any clinical significance.' With some questions still to be answered regarding the Lumipulse blood test, many experts expressed their hope that it will provide more assistance in the early diagnosis of Alzheimer's disease. 'This is an exciting time in the field, as we now have a noninvasive, easily accessible test that can help identify Alzheimer's disease in individuals experiencing memory changes,' Patel said. 'Having an easily accessible blood test will allow for an earlier diagnosis in those with cognitive changes and serve as an opportunity for participation in clinical trials and receive treatments that may impact disease progression.' 'I was genuinely excited to hear about the FDA's [clearing] of this blood test, as it represents a significant advancement in simplifying the evaluation of patients who present with symptoms that might suggest Alzheimer's disease,' Gliebus commented. 'This test offers a less invasive and more accessible way to evaluate the condition, potentially transforming how we approach early diagnosis and patient care.' Lower cost, less invasive 'The less invasive nature of a blood test will likely encourage more people experiencing mild cognitive impairment or early symptoms to seek testing. Earlier diagnosis is crucial for maximizing the effectiveness of current and future treatments. The simplicity and lower cost of blood tests compared to PET scans or spinal taps will make testing more accessible to wider populations, including those in underserved communities or without easy access to specialized medical centers. This could lead to earlier diagnosis for individuals who might otherwise go undiagnosed for years.' — Manisha Parulekar, MD, FACP, AGSF, CMD 'We do have to follow appropriate steps in the diagnosis and make sure to use this as a diagnostic tool — this is not a screening test. It's a tool that holds promise — its true impact will depend on how it's integrated into clinical practice,' Parulekar added.
