Tag Archives: blood test

A blood test that can detect early-stage cancer is accurate enough to be rolled out

The blood test, soon to be piloted in the UK, is aimed at people at higher risk of the disease, including patients of 50 years or older. It can identify more than 50 types of cancer before any clinical signs or symptoms of the disease, including some that are difficult to diagnose early – such as pancreatic, head and heck, ovarian and esophageal. Although it’s not perfect, it’s still good enough to spot a lot of early cancers, and save a lot of lives.

Image credit: Flickr / Phillip Jeffrey

The quicker you detect any type of cancer, the better your chances to eliminate it without any dangerous complications. Survival rates have improved substantially in recent years for many types of cancer, in part due to earlier detection. Unfortunately, detecting cancer early is often difficult — and the tests themselves can be expensive and unpleasant. This is where the new blood test would come in.

Using a blood test to detect cancer is not a new idea. It’s extremely challenging, but in the past few years, there have been a few encouraging results from studies. In the latest effort, an international team developed a blood test that can accurately detect cancer, often before any signs or symptoms, while having a very low false positive rate. 

“Finding cancer early, when treatment is more likely to be successful, is one of the most significant opportunities we have to reduce the burden of cancer,” Eric Klein, first author of the paper, said in a statement.  “These data suggest that, if used alongside existing screening tests, the multi-cancer detection test could have a profound impact on how cancer is detected.”

The test looks for chemical changes in fragments of genetic code that leak from tumors into the bloodstream. Scientists investigated the performance of the test in 3,537 people (2,823 people with cancer and 1,254 without). It correctly identified when cancer was present in 51.5% of cases, across all stages of the disease, with a false-positive rate of 0.5%. It misses just under half of all cases, which means there’s still a lot of work to be done, but given its relative ease, identifying half of cancers (most of which would otherwise go undetected) can be very helpful.

The test’s performance varied based on the type of cancer and how far it had progressed. Esophageal, liver and pancreatic tumors were more likely to be detected (65.6% detection rate) than cancers of the breast, bowels, cervix and prostate (33.7%).

The test’s sensitivity also increased with the cancer’s malignancy, across all disease types — from 16.8% at the earliest stage I, 40.4% at stage II, 77% at stage III and up to 90.1% at stage IV, when the tumor has metastasized and spread to other locations in the body. The test was also able to identify the tumors’ organ sites 88.7% of the time, giving clinicians a head-start.

“We believe that cancers that shed more cfDNA (cell-free DNA) into the bloodstream are detected more easily. These cancers are also more likely to be lethal, and prior research shows that this multi-cancer early detection test more strongly detects these cancer types,” said Klein. “Cancers such as prostate shed less DNA than other tumours, which is why existing screening tests are still important for these cancers.”

The test, developed by US-based company Grail, is currently available by prescription in the US. Meanwhile, in the UK, the National Health Service (NHS) will trial the test this year with 165,000 people. If it works as expected for people without symptoms, the test will be rolled out to become routinely available. Results are expected by 2023. 

The study was published in the journal Annals of Oncology. 

Scientists find 14 biomarkers associated with dying from any cause

What if you could take a simple blood test that tells you whether or not you’re at risk of dying in the next 5 to 10 years? Indeed, this sort of test would be truly life-saving, enabling people to make immediate lifestyle changes or quickly enter therapy in order to stave off the grim prognosis — and this “all-cause mortality” blood test isn’t actually that far away from reality.

A team of Dutch researchers at Leiden University led by Eline Slagboom found 14 biomarkers that are independently associated with mortality in people of all ages. When combined, they reveal an index or risk score that reflects a person’s chance of dying in the near future.

“Robust predictors of intermediate- and long-term mortality may be valuable instruments in clinical trials and medical decision-making,” the authors wrote in the journal Nature Communications.

“The associations of these biomarkers were consistent in men and women and across age strata. The identified biomarkers represent general health up to the highest ages rather than specific disease-related death causes. In combination, these biomarkers clearly improve risk prediction of 5- and 10-year mortality as compared to conventional risk factors across all ages.”

The results are based on data from biobanks around the world, involving more than 44,000 individuals aged 18 to 109. During the study’s follow-up, nearly 5,500 participants died.

By examining the data, the researchers were able to figure out which biomarkers were most strongly associated with potential mortality — a prime example is glucose. However, some of the markers can be used to evaluate overall health. For instance, the ratio of polyunsaturated fats to total fatty acids is associated with decreased mortality.

Ultimately, the researchers tested the predictive ability of these biomarkers on people of different age groups. Their model suggests that the 14 biomarkers more accurately predict the 5- to 10-year mortality risk than other methods.

Finding out that there are good odds you’ll die in the next five years sounds horrible. For this reason, it’s understandable why many would choose to stay clear of such a test. However, in a medical context, a mortality risk blood test could mean the difference between carrying out a risky surgery and employing some other avenue of treatment for fragile patients.

In the future, the Dutch researchers would like to test how their biomarker score influences patient outcome.

“The currently used metabolomics platform can be incorporated in ongoing clinical studies to explore its value, opening up new avenues for research to establish the utility of metabolic biomarkers in clinical settings,” the authors concluded.

New melanoma blood test could be a game changer for early detection

A new blood test for melanoma could detect the cancer in its early stages — a window when it is still highly treatable, and survival rates are over 98%. Melanoma, which often spreads quickly, is currently detected through biopsies and skin examinations.

Mis-identification

Melanoma is the most dangerous type of skin cancer, often linked to exposure to ultraviolet radiation from sunshine or tanning beds. It poses a huge threat and can spread very quickly, so early detection is crucial. However, identifying melanoma is often challenging.

Typically, doctors identify suspicious-looking moles, which they examine visually and cut out for biopsies. This process is not flawless: only 30% of the analyzed tissues are identified as melanoma, and a substantial amount of cancers elude detection.

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In an article aptly titled ‘An unforgivable delay,’ published in the Lancet in 2005, a psychiatrist acknowledges how as a young internist he dismissed a soft tissue swelling in a middle-aged lady, as a ‘lipoma’ — a benign tumor made of fat tissue. Much to his chagrin, he later realized that it was actually a case melanoma. The confessional, alongside similar experiences with the diagnosis of this tumor, prompted the present review.

“When I was a young doctor I temporarily replaced an established internist in my town. One morning, a 45 year-old woman came to me in a state of high anxiety,” Alberto Foglia wrote in 2005. “She had noticed a deep-seated soft swelling in her right thigh. She told me openly that she had not wanted to come to me because she thought I was too young, but she felt she could not wait for the return of the regular physician a month later. At the same time she continually asked me for reassurance. “Is it true, doctor, that this is nothing to worry about? It is just a cyst, isn’t it?””

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Stories where melanoma has been misidentified or missed altogether abound, which is why a reliable and fast blood test could make such a big difference — not only would it help with the accuracy of the diagnosis, but it would enable early detection of melanoma, which is often challenging.

A blood test

Developed by scientists at Edith Cowan University in Australia, the test doesn’t detect the melanoma itself, but rather the auto-antibodies produced by the body to fight the cancer. The trial involved about 200 people — half of whom had melanoma. The results were impressive, but not perfect: the test was successful in 81.5% of cases. However, even with this success rate, early detection could save thousands of lives: melanoma claims 1,500 lives each year in Australia alone, says Professor Mel Ziman, head of the Melanoma Research Group at the university, who led the study.

If the melanoma is detected when it’s still less than 1 mm thick, you have a 98-99% chance of survival, Ziman says. If it spreads beyond that, things can get much trickier.

“It’s critical that melanoma is diagnosed more accurately and early,” Ziman said. “So a blood test would help in that identification particularly at early stage melanoma, which is what is the most concerning and would be most beneficial for everybody if it was identified early.”

It’s important to note that this blood test is still in its early phases. Not only do researchers have to improve the sensitivity of the procedure and reduce the false-positive rate, but the test also needs to be assessed more thoroughly and on a larger number of participants. It will now undergo clinical trials, which are scheduled to start within the next three years. The test did not pick up on other types of skin cancer.

So far, the medical community has been cautiously optimistic about this procedure. There’s still a long way to go before we can even talk about this blood test becoming a reality in hospitals. For now, scientists caution, you should still regularly check your skin for abnormal-looking moles — particularly if you live in a very sunny area or if you use tanning beds.

“The false positive and false negative rates of this test mean that the results will need to be interpreted with caution and, where practical, combined with a full skin check by a dermatologist,” Prof Rodney Sinclair, a University of Melbourne dermatology expert, told Australian Associated Press.

Journal Reference: Pauline Zaenker et al. A diagnostic autoantibody signature for primary cutaneous melanoma, Oncotarget (2018). DOI: 10.18632/oncotarget.25669

New objective blood test could diagnose autism in children

Scientists have found a link between autism and a set of proteins in the blood. This could be detected through a blood test, facilitating an earlier detection of the disorder.

Image in public domain.

Autistic spectrum disorder (ASD) is still a poorly understood condition. It affects information processing in the brain by altering how nerve cells and their synapses connect and organize, but the mechanism through which this happens is still unclear. Rather, autism is generally defined as a broad set of developmental disorders which cover a wide spectrum of behavioral problems. These problems can vary wildly in intensity and how they manifest themselves, potentially including speech disturbances, repetitive and/or compulsive behavior, hyperactivity, anxiety, and difficulty to adapt to new environments.

Since there is such a wide range of ASD symptoms, it can be extremely difficult to diagnose autism, especially at the early stages of development. Suspicious behavior of children can often be explained by natural causes, and symptoms can sometimes be quite subtle. This is why a direct, objective physical test would be extremely useful.

Researchers working in Bologna, Italy, locally recruited 38 children (29 boys and nine girls) who were diagnosed with ASD, as well as a control group of 31 healthy children (23 boys and eight girls) between the ages of five and 12. Blood and urine samples were taken from each of them.

The team noted the chemical differences in the samples and then inserted them into an Artificial Intelligence (AI) algorithm. The AI developed a mathematical equation that distinguishes between ASD and healthy controls. The outcome was a diagnostic test better than any method currently available.

Dr. Naila Rabbani at the University of Warwick and lead author of the study said that the discovery could lead to “earlier diagnosis and intervention.”

The false positive rate was very low (positive predictive value was 88%), while the overall accuracy was 88%, she told ZME Science in an email. She was also kind enough to detail exactly how the test works.

“The test is based on an optimum combination of markers of damage to protein in blood plasma. The damage is low level and of two main types: oxidative damage – likely linked to low-level inflammation, and damage caused by the reactive carbonyl metabolite, glyoxal – likely linked to increased lipid peroxidation. Similar damage may be occurring in the brain in autism. We also found some disturbance in the handling of the amino acid arginine which supports previous evidence of a genetic association with autism.”

She also added that their discovery can lead to a better understanding of the autistic specter, allowing us to understand what causes it and how it manifests throughout the body.

“We hope the tests will also reveal new causative factors. With further testing we may reveal specific plasma and urinary profiles or “fingerprints” of compounds with damaging modifications. This may help us improve the diagnosis of ASD and point the way to new causes of ASD.”

So far, the study only analyzed children from age of 5 – 12 years old — the applicability of the test in younger age groups remains to be assessed in future research. But since the test is objective and doesn’t require any psychological evaluation, it could be scaled and implemented in clinics around the world

“The test could be widely implemented and provided by well-equipped clinical centers. Our test is an objective, blood-based clinical chemistry test that does not require psychiatric expertise,” Dr. Rabbani told ZME Science.

“With further development, this test could help with the diagnosis, care and treatment of children with autism.”

ASD is caused by a combination of genetic and environmental factors. Genetic factors have been found to account for 30-35% of cases of ASD and the remaining 65-70% can be explained by a combination environmental factors, multiple mutations, and rare genetic variants.

This study is reminiscent of a previous effort which found that autism can be detected even in babies by monitoring brain activity. The idea is somewhat similar — you find the differences in the brains of ASD sufferers and feed them into an algorithm which then predicts autism incidence. The beauty of this approach is that you don’t even need to know exactly what you’re detecting, you just find enough differences, and that’s enough to successfully predict incidence.

Scientists develop new Alzheimer’s blood test for early signs

Scientists from Australia and Japan have invented a blood test that assesses the levels of beta-amyloid build-up in the brain. Beta-amyloids are amino acids crucially involved in Alzheimer’s disease.

Source: Wikipedia

The battle against Alzheimer’s is a hard one

Accumulation of beta-amyloid decreases neuronal activity in large areas of the brain. However, beta-amyloid builds up in the brain of an Alzheimer’s patient decades before any clinical signs — such as cognitive problems and loss of memory — show up. This means that in theory, detecting beta-amyloid could enable physicians to detect Alzheimer’s before it actually sets in.

For decades, scientists have been trying to design a blood test, especially as current methods are expensive and cannot be used as screening methods on a large scale. Nowadays, doctors use positron emission tomography imaging (PET scans) or cerebrospinal fluid (CSF) analysis via spinal tap or lumbar puncture to diagnose the disease. That’s not only expensive, but also invasive, unpleasant, and time-consuming. Having a simple blood test could change all that.

However, designing a screening test for the disease has proven extremely difficult as relatively little beta-amyloid is found in the bloodstream, compared to how much lies in the brain. Most past studies have failed to find a correlation between the two but now for the first time, researchers believe they have finally cracked that problem.

Colin Masters, a professor of neuroscience at the Melbourne-based Florey Institute, who has spent 30 years researching an Alzheimer’s test, said mass spectrometry was more sensitive and accurate at detecting beta-amyloid levels than PET brain scans and lumbar punctures. He managed to successfully use this technique to detect beta-amyloid building up in the blood.

“By the time you hit 60 to 70 about 30% of the population are showing signs of this protein aggregating in their brain and that can be picked up now with this blood test,”  said Prof Masters.

Beta-amyloid structure.
Via: Wikipedia

The blood test, a new hope

A new, painless and more cost-effective Alzheimer’s test could help more people know if they are on the path of developing this condition. This could not only help detect Alzheimer’s quicker and more efficiently, but it could also help researchers ultimately find a cure — ensuring that future medical trials have numerous suitable participants, something which has proven challenging. Usually, present participants have late-stage Alzheimer’s that is treatment-resistant. It is extremely difficult to see if a kind of medicine is helping without having numerous early-stage patients enrolled in trials. If this simple blood test gets scientific approval, it might turn the odds in researchers’ favor.

“If a person knows they are on this pathway well before the onset of any cognitive impairment some would want to alter their lifestyles,” Prof Masters said.

The study included 121 people from Japan and 252 from Australia, both groups involving Alzheimer’s patients with normal brain function and mild cognitive impairment. Researchers found the amount of amyloid present in the blood correlated with the degree of cognitive impairment. Amyloid levels also correlated with findings in the same patients from classical diagnostic tools, PET scans, and CSF measures.

James Hendrix, director of Global Science Initiatives for the Alzheimer’s Association (the largest nonprofit funder of Alzheimer’s research), who was not involved in the new research, thinks that this is a truly important study.

“It is from a top research team. It is a decently large sample size. And most important, they are correlating their results to PET and CSF. That cross-validation to other techniques is great to see—we haven’t seen this before for a blood test in Alzheimer’s,” he said in a statement.

Neurofibrillary tangles in the Hippocampus of an old person with Alzheimer-related pathology.
Via: Wikipedia

 

“I can see in the future, five years from now, where people have a regular checkup every five years after age 55 or 60 to determine whether they are on the Alzheimer’s pathway or not,” hopes Prof Masters.

The paper was published Jan. 31 in the journal Nature.

blood test cancer

Blood test might diagnose all forms of cancer

A promising diagnosis test can accurately detect cancer in 7 out of 10 patients just by reading telltale genetic mutations found in the blood. While it will not replace invasive biopsies when the test runs negative, the procedure could help identify tumours earlier.  When cancer is involved, the faster you find it, the better the chance of surviving it.

blood test cancer

Image: Getty

The test was developed for lung tumors in particular, but findings show it can identify other forms of cancer that share the same markers, like  colorectal cancer. The test was developed by doctors at the Royal Brompton Hospital and the National Heart and Lung Institute (NHLI) at Imperial College London and works by screening plasma from the blood for  tiny fragments of genetic material. These cancerous fragments are known as  circulating tumor DNA.

These sort of blood tests aren’t exactly new, but they’ve only now become feasible. A couple years ago it cost even millions to sequence human DNA. Advances in gene splicing tech means that this cost has dropped to a couple hundred dollars.

Using this test, the researchers at the hospital were able to identify 7 out of 10 patients which were later confirmed to have cancer with other methods. Consultant thoracic surgeon Eric Lim, who led the study, said the test could be “a real game changer” in the diagnosis and treatment for all types of cancer.

 “The test is not an alternative to a biopsy for all patients, but when a blood test shows a positive result, this could mean a patient is saved from going through an unnecessary and invasive diagnostic procedure,” Lim said.

“It might also result in patients having earlier imaging scans and beginning treatment sooner.”

A negative result from the blood test would not completely rule out the presence of cancer cells, so follow-up using conventional diagnosis methods would still be required.

This isn’t the first blood test for cancer with promising results. ZME Science previously reported how researchers at  University of Bradford used a similar method to identify 20 patients with melanoma, 34 with colon cancer, and 4 with lung cancer. Just a few months ago, researchers at  The Institute of Cancer Research  were able accurately predict which breast cancer patient will relapse next by tracking key mutations of residual cancer cells found in the blood.

While cancer might never be cured, the next couple of years should see a steep decline in cancer fatalities through prevention and diagnosis advances such as these.

Image: Dr Meletis

Simple blood test predicts which breast cancer patient will have a relapse months in advance

The trend is clear: medicine is becoming more and more personalized. Ultimately, when you’ll enter a hospital for a diagnosis or treatment, a (likely digital) doctor will use tailored solutions to address your health needs, all based on your past medical and genetic records. Considering diagnosis, just a few drops of blood will be enough to diagnose a plethora of afflictions. Take the latest news coming from the The Institute of Cancer Research in London, for instace. There, British doctors were able accurately predict which breast cancer patient will relapse next by tracking key mutations of residual cancer cells found in the blood. It’s a very powerful tool – one that will probably become standard practice soon.

Image: Dr Meletis

Image: Dr Meletis

Cancer is devastating, both for patients and family. What makes it particularly terrifying is that, once you get treated, there’s always this muted fear lying in the background. This silent horror that cancer will one day relapse.

Testing for breast cancer

The key to fighting cancer is finding it early, whether we’re speaking of the first stage or relapse(s). Right now, treated cancer patients have biopsies at regular time intervals to see whether there’s any risk of relapsing. The new method employed by the British researchers might be just as effective, only cheaper and at the fraction of the hassle.

Researchers gathered tumor and blood samples from 55 breast cancer patients with early-stage disease who had received chemotherapy followed by surgery. These patients were potentially cured of their breast cancer, but statistically speaking some of them should have the cancer relapse. Then, a technique called “mutation tracking” was used to identify tumor DNA in the bloodstream. .

Women who tested positive for tumor DNA in the blood were at 12 times the risk of relapse. The relapse was detected on average 7.9 months before any visible signs emerged. It’s worth mentioning that the test works for all known types of breast cancer, as reported in Science Translational Medicine.

The test are not only important for diagnosis, but basic science as well. Armed with thousands of such tests, doctors can have a better knowledge of how leftover cancer mutates, develops and spreads over time.

“This important study suggests that looking for tumour DNA in a patient’s blood after they’ve been treated for early stage breast cancer could help monitor them, and even make predictions about whether their disease may come back,” said  Professor Jacqui Shaw, an expert in circulating tumour DNA from Cancer Research UK.

“And it may be possible to do this before tumours become visible on conventional scans. But there is some way to go before this could be developed into a test that doctors could use routinely, and doing so is never simple.”

“Finding less invasive ways of diagnosing and monitoring cancer is really important. And fishing for fragments of tumour DNA, or even rogue cancer cells, released into the bloodstream has emerged as a hugely promising way to do this,” Prof. Shaw added.

After a couple more rounds of clinical trials, mutation tracking could become common practice within a couple of years.

This week has been particularly fruitful for cancer research. In other news, cancer cells have been programmed back to normal by scientists in a breakthrough which could lead to new treatments and even reverse tumour growth.

alzheimer brain scan

Blood test for Alzheimer’s detects the disease with 90% accuracy

Considering population growth and increased life expectancy, experts estimate that by  2050 some 115 million people will be afflicted by Alzheimer’s disease – a prevailing neurodegenerative disease that needs no introduction. There’s no cure to Alzheimer’s, but there are treatments that help mild symptoms or prolong sanity before the point of no return is reached. All of these treatments, however, require diagnosing the disease early on for them to have any lasting effect. Current methods are difficult, expensive and not that reliable.

Neuroscientists at  University of California (UC) claim it may be possible to predict with 90% accuracy whether older people will develop the disease over the course of 2 to 3 years simply by looking at a blood sample. If these results can be replicated and the method is found reliable, it could potentially revolutionize the way Alzheimer is being treated today, especially considering there are many voices in the medical field today that call for more drug testing in the disease’s early stage in hope that a cure may actually be found.

A blood test for Alzheimer’s?

The most reliable diagnosis tool for Alzheimer’s involves a brain autopsy. Obviously, it’s as useful as a horse with no legs. Next in the line is extracting fluid from the spinal cord and measuring hallmark protein levels, which is damn painful. Less invasive is running brain scan images in search for the same  protein plaques and tangles in brain tissue which mark the disorder. Neither method, except the autopsy, is that reliable though.

In contrast, if found indeed accurate, the sort of blood test the UC researchers perform is extremely simple to do, doesn’t involve any pain or brain slashing, and may prove to be reliable.

alzheimer brain scan

Image shows two brain scans: top healthy brain; bottom alzheimer’s diseased brain. photo: oenolog.ro

The researchers first recruited a couple hundred senior volunteer and collected blood samples, which they then froze and had them shipped to a lab where a mass spectrometer analyzed the blood’s chemical markup to the last molecule. For three years, the progress of the volunteers was followed and   53 people were identified with mild cognitive impairment or Alzheimer’s disease,  18 of whom had not displayed any symptoms at the beginning of the study. Scientists made a comparative analysis of the 53 seniors with Alzheimer’s against 53 other from the same group, chosen at random that were not diagnosed with Alzheimer’s or exhibited any symptoms.

Those who showed mental decline exhibited significant alterations in the blood levels of 10 different chemicals,  including fatty molecules called phospholipids, which help keep cell membranes in the brain and body intact. To see how accurate to truth their correlation was, the researchers then chose 41 volunteers at random to see if they could predict if any of them would get Alzheimer’s. Their analysis proved to be 90% accurate of the time.

This sounds like a huge big deal; and frankly, I think it is. Before these results are replicated with larger groups and by other independent research groups, some scientists advise, it’s best not to get our hopes up just yet. Anyone can get Alzheimer’s, really, a fact reflect by the extremely diverse population of patients. It’s possible that the blood tests performed in the present study only catered to a couple of similarities, but on real tests with millions of patients, it’s possible the blood test might become overwhelmed by too many conditions and fail as a reliable diagnosis tool.

Still, the implications of such a simple tool would be immense and could help millions of people ‘waiting’ to be gripped by dementia prolong their sanity and maybe even aid in developing the next line of treatments that might ultimately lead to a cure. Many such studies “have turned out to be a flash in the pan,” says Robert Green, a medical geneticist at Harvard University, but the new study “is more sophisticated than most.”

Findings were published in Nature Medicine.