blood test

New blood test close to ‘cracking the code’ on pancreatic cancer early detection

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Key takeaways:

  • The blood test reliably detected patients with stage I and II pancreatic ductal adenocarcinoma with 97% accuracy.
  • Combining microRNA markers with CA 19-9 improved diagnostic accuracy.

Perspective from Sanjay S. Reddy, MD, FACS

An investigational exosome-based liquid biopsy showed better than 90% accuracy for detecting early-stage pancreatic cancer among U.S.-based participants in a prospective multicenter study.

When combined with a signature that identified the protein CA 19-9, a known tumor biomarker for pancreatic cancer, the novel liquid biopsy accurately detected 97% of stage I or stage II pancreatic ductal adenocarcinoma in the same study cohort, according to data presented at American Association for Cancer Research Annual Meeting.

Cancer detection rates.
Data derived from Xu C, et al. Abstract 3899. Presented at: The American Association for Cancer Research Annual Meeting; April 5-10, 2024; San Diego.

Data provided by the NCI highlighted the need for early detection of pancreatic cancer —the 5-year survival rate for individuals diagnosed at stage I or II before the cancer has spread outside of the pancreas is approximately 44% compared with an estimated 3.2% for patients with metastatic disease.

“We purposefully focused ourselves to try to find this cancer as early as possible, preferably stage I or II, and the reason being that if you find somebody with a stage I or II (pancreatic) cancer, there’s a very high chance you can surgically remove the cancer and that’s probably the best way to manage these patients,” Ajay Goel, PhD, AGAF, professor and chair of the department of molecular diagnostics and experimental therapeutics at Beckman Research Institute of City of Hope and associate director of basic sciences at City of Hope Comprehensive Cancer Center, told Healio. “Even in patients with early stage I cancer, if you remove the cancer completely some of the patients can be actually ‘cured,’ which is a frowned upon word when it comes to pancreas cancer, but it is feasible.”

Background, methods

Pancreatic ductal adenocarcinoma (PDAC) is one of the more lethal human malignancies, with 5-year survival rates dropping dramatically if diagnosed in later stages.

Researchers at City of Hope previously reported on a noninvasive exosome-based liquid biopsy assay that can assist in the early detection of PDAC. At AACR Annual Meeting, researchers presented study results that sought to validate performance of the liquid biopsy assay in a multi-institutional international evaluation.

The study included patients from Japan (150 with PDAC and 102 healthy controls), the United States (139 with PDAC and 193 healthy donors), South Korea (184 with PDAC and 86 healthy donors) and China (50 with PDAC and 80 healthy donors).

Researchers conducted a real-time quantitative polymerase chain reaction-based assay using plasma biospecimen from the four cohorts, while also evaluating the performance of the microRNA (miRNA) signature in combination with plasma CA 19-9 to detect early-stage PDAC.

Results

Researchers established two panels — cell-free miRNAs and exosomal miRNAs — through the Japan cohort, which was used as a training cohort. Patients with PDAC had area under the curve (AUC) values of 0.95 and health donors had 0.97.

After combining the two panels, researchers noted that the resultant signature had 98% accuracy distinguishing between patients with PDAC and healthy donors with 98% accuracy.

Researchers validated the signature’s detection ability in the three additional cohorts (U.S., AUC = 0.93; South Korea, AUC = 0.91; China, AUC = 0.88).

When combined with detection for CA 19-9, researchers reported that the overall diagnostic performance of the liquid biopsy assay improved significantly for the early detection of PDAC (AUC = 0.97; with 95% sensitivity and 96% specificity).

Next steps

Researchers believe the noninvasive exosome-based liquid biopsy assay can provide early detection of PDAC, with upcoming validating studies in development before potentially being available in clinics.

“We published this study a year or so back and we had the numbers in the (lower 90s) but we continued to tweak the assay, which we knew by doing so would optimize it further and we would see an overall gain — but we didn’t expect it to be 97% accurate,” Goel told Healio. “These data give us a lot more confidence and promise.”

Despite not being ready for clinical use, deployment of the detection assay is not far off in the future either, he added.

“I think we are getting closer to cracking the code on early detection of pancreatic cancer,” Goel said. “Overall, these results are quite promising, but we do still have a lot more work ahead of us.”

References:

PERSPECTIVE

This study centers around the concept of early detection of pancreatic cancer. Because this is one of the most aggressive malignancies, this proves to be pivotal in the fight against pancreas cancer. Although there has been no ideal biomarker screening mechanism for early detection, the fundamental ability of a blood test to detect signatures of shed tumor cells — in theory — holds tremendous promise. Utilizing traditional blood tests such as a CA 19-9 — and now these exosome liquid biopsies — at an early stage could lead to a simple way to potentially screen individuals who may be at higher risk. The primary concern with pancreas cancer is that this disease is often systemic, and deep-rooted weeds prove to be the most challenging to address. With these novel techniques for early detection, we hope to address the evolution of this disease at a time point where we can successfully intervene.

Sanjay S. Reddy, MD, FACS

Marvin S. Greenberg, MD, chair in pancreatic cancer surgery

Fox Chase Cancer Center

New Blood Test for Colon Cancer Highly Accurate in Trial

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Promising results of this new option — the results of the study were published this week in the New England Journal of Medicine — could help convert the estimated 1 in 3 people who don’t stay up-to-date on screenings that should begin at age 45. If everyone in the U.S. got screened regularly, as many as 90% of deaths linked to colorectal cancer may be avoided, the researchers wrote. Current screening options are often considered unpleasant experiences — collecting a fecal sample at home and mailing it, or taking laxatives and going under sedation for a colonoscopy procedure.This video is from the WebMD Archive.

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The blood test can detect DNA shed into the bloodstream from tumors, and in a trial of more than 7,800 people, the new test accurately detected colon cancer at early, treatable stages 87% of the time. The false-positive rate was 10%. The test was less successful at detecting advanced precancerous lesions, with just 13% being detected. In comparison, fecal tests are about 42% successful at early detection, and colonoscopies are up to 93% accurate, according to a summary from the American College of Surgeons.

Colorectal cancer is the second leading cause of cancer death in the U.S. and one of the most common types of cancer overall. More than 150,000 people nationwide are diagnosed annually, and more than 50,000 people die each year from cancers of the colon or rectum.

Early detection at the precancerous stage is an important consideration, according to a group of medical professionals who specialize in diseases of the gastrointestinal tract. 

“While a blood test can be an additional tool, it shouldn’t be used in place of a colonoscopy,” a statement from the American Gastroenterological Association advised.

“Colonoscopies allow detection and removal of precancerous polyps as well as identifying cancer early when it is in the most treatable stages. The blood test reported in the New England Journal of Medicine study is only designed to pick up cancers and not precancerous polyps.”

Current screening guidelines suggest a colonoscopy every 10 years for people at average risk, or annual fecal testing.

The new blood test would be given every 3 years, and, according to maker Guardant Health, may be considered for approval by the FDA sometime this year, NBC News reported.

Blood Test Detects 24-Hour of Sleep Deprivation

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Summary: Researchers developed a blood test capable of detecting 24-hour sleep deprivation with high accuracy, offering promising applications for enhancing safety in various contexts.

The test, which combines specific markers in the blood, was shown to identify individuals who had been awake for more than 24 hours with up to 99.2% accuracy under laboratory conditions. This innovation aims to address the global challenge posed by sleep deprivation, particularly in safety-critical roles and situations like driving, where fatigue significantly increases the risk of accidents.

By providing a scientific method to assess sleep deprivation, this breakthrough has the potential to transform health and safety management related to insufficient sleep.

Key Facts:

  1. High Accuracy Detection: The biomarker test accurately predicts 24-hour wakefulness with up to 99.2% accuracy, dropping to 89.1% in a diagnostic setting without comparison to a well-rested sample.
  2. Potential for Safety Improvement: Given that 20% of road accidents are caused by sleep deprivation, this test could significantly improve safety by identifying sleep-deprived individuals in contexts such as driving and safety-critical workplaces.
  3. Future Applications and Research Needed: While promising, the test requires further validation in less controlled environments and potential development for forensic use, as well as exploration of non-invasive testing methods like saliva or breath analysis.

Source: University of Birmingham

A blood test that can accurately detect when someone has not slept for 24 hours has been developed by experts at Monash University, in Australia, and the University of Birmingham, in the UK.

This level of sleep deprivation increases the risk of serious injury or fatality in safety critical situations.

Published in Science Advances, the biomarker used a combination of markers found in the blood of healthy volunteers. Together, these markers accurately predicted when the study volunteers had been awake for more than 24 hours under controlled laboratory conditions. 

This shows a man sleeping.
The test may be also ideal for future forensic use but further validation is required.

The biomarker detected whether individuals had been awake for 24 hours with a 99.2 percent probability of being correct, when compared to their own well-rested sample. When a single sample was considered without the well-rested comparison (similar to a diagnostic blood test), it dropped to 89.1 per cent, which was still very high.

With about 20 percent of road accidents worldwide caused by sleep deprivation, researchers hope the discovery may inform future tests to quickly and simply identify sleep-deprived drivers. The biomarker could also be developed for other situations where sleep deprivation may lead to catastrophic consequences, such as in safety-critical workplaces.

Senior author Professor Clare Anderson led the research while she was with the Monash University School of Psychological Sciences and Turner Institute for Brain and Mental Health. She is now Professor of Sleep and Circadian Science at the University of Birmingham in the UK.

“This is a really exciting discovery for sleep scientists, and could be transformative to the future management of health and safety relating to insufficient sleep,” Professor Anderson said. “While more work is required, this is a promising first step.

“There is strong evidence that less than five hours’ sleep is associated with unsafe driving, but driving after 24 hours awake, which is what we detected here, would be at least comparable to more than double the Australian legal limit of alcohol performance wise.”

The test may be also ideal for future forensic use but further validation is required.

First author Dr Katy Jeppe, from the Monash Proteomics and Metabolomics Platform, previously from the School of Psychological Sciences, said it was difficult to say how soon the test could be developed for post-accident use.

“Next steps would be to test it in a less controlled environment and maybe under forensic conditions, particularly if it was to be used as evidence for crashes involving drivers falling asleep,” Dr Jeppe said.

“Given it’s blood, the test is more limited in a roadside context, but future work could examine whether our metabolites, and therefore the biomarker, are evident in saliva or breath.”

This sleep deprivation biomarker is based on 24 hours or more awake, but can detect down to 18 hours awake. A biomarker for limited sleep over the previous night could be developed but more research is required to combine the time since sleep with the amount of sleep in the predictions.

“Much further work would be needed if laws were to change and a sleep deprivation test introduced on the road or in workplaces,” Dr Jeppe said.

“This would include further validation of biomarkers, as well as establishing safe levels of sleep to prevent and recover from impairment, not to mention the extensive legal process.”

“A biomarker for limited sleep over the previous night could be developed, and others have made progress in this respect (Depner et al.).”

Sleep deprivation can have fatal consequences for other safety-critical occupations. Major catastrophes including the Chernobyl nuclear reactor meltdown and the Challenger space shuttle Disaster* are thought to be caused, in part, by human error associated with fatigue.

“Objective tests that identify individuals who present as a risk to themselves or others are urgently needed in situations where the cost of a mistake is fatal,” Professor Anderson said.

“Alcohol testing was a game changer for reducing road crashes and associated serious injuries and fatalities, and it is possible that we can achieve the same with fatigue. But much work is still required to meet this goal.”    

Funding: This research was conducted in association with the Cooperative Research Centre for Alertness, Safety and Productivity.

About this sleep deprivation research news

Author: Beck Lockwood
Source: University of Birmingham
Contact: Beck Lockwood – University of Birmingham
Image: The image is credited to Neuroscience News

Original Research: Open access.
“Accurate detection of acute sleep deprivation using a novel metabolomic biomarker – a machine learning approach” by Clare Anderson et al. Science Advances

Abstract

Accurate detection of acute sleep deprivation using a novel metabolomic biomarker – a machine learning approach

Sleep deprivation enhances risk for serious injury and fatality on the roads and in workplaces. To facilitate future management of these risks through advanced detection, we developed and validated a metabolomic biomarker of sleep deprivation in healthy, young participants, across three experiments.

Bi-hourly plasma samples from 2 × 40-hour extended wake protocols (for train/test models) and 1 × 40-hour protocol with an 8-hour overnight sleep interval were analyzed by untargeted liquid chromatography–mass spectrometry.

Using a knowledge-based machine learning approach, five consistently important variables were used to build predictive models. Sleep deprivation (24 to 38 hours awake) was predicted accurately in classification models [versus well-rested (0 to 16 hours)] (accuracy = 94.7%/AUC 99.2%, 79.3%/AUC 89.1%) and to a lesser extent in regression (R2 = 86.1 and 47.8%) models for within- and between-participant models, respectively.

Metabolites were identified for replicability/future deployment. This approach for detecting acute sleep deprivation offers potential to reduce accidents through “fitness for duty” or “post-accident analysis” assessments.

New Blood Test Breakthrough for Schizophrenia Management

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Summary: developed a groundbreaking blood test capable of measuring the severity and risk of schizophrenia, fundamentally changing the approach to diagnosing and treating this complex psychiatric disorder. The test identifies specific biomarkers that not only predict the condition’s progression but also facilitate personalized treatment plans.

This study builds on two decades of research into psychiatric biomarkers, offering hope for more objective assessments and effective interventions. By linking patients with the most suitable medications early on and providing essential social support, this innovation paves the way for advancements in precision psychiatry, potentially mitigating the disorder’s impact during critical periods of young adulthood.

Key Facts:

  1. The blood test can objectively assess schizophrenia’s current severity and future risk, enhancing early diagnosis and treatment matching.
  2. The study identified biomarkers predictive of hallucinations, delusions, and future hospitalizations, allowing for tailored therapeutic approaches.
  3. This breakthrough is part of a larger body of work on psychiatric disorder biomarkers, with the test expected to be available later this year through MindX Sciences.

Source: Indiana University

A team of researchers led by Indiana University School of Medicine faculty have developed a breakthrough new blood test for schizophrenia, a psychiatric disorder that includes hallucinations and delusions.

Schizophrenia and related psychotic disorders affect over 3 million people in the United States. The new test identifies biomarkers in a person’s blood that can objectively measure their current severity and future risk for schizophrenia and match them to treatments that will be most effective for their individual biology.

This shows a man's face.
The work builds on previous research over the last two decades by Niculescu and his colleagues on blood biomarkers for other psychiatric disorders (mood disorders, anxiety, post-traumatic stress disorder, suicidality risk, pain and memory disorders).

“Schizophrenia is hard to diagnose, especially early on, and matching people to the right treatment from the beginning is very important,” said Alexander Niculescu, MD, PhD, Professor of Psychiatry and Medical Neuroscience at the IU School of Medicine, staff psychiatrist and investigator at the Richard L. Roudebush Veterans Administration Medical Center in Indianapolis and senior author on the study.

“Psychosis usually manifests in young adulthood — a prime period of life. Stress and drugs, including marijuana, are precipitating factors on a background of genetic vulnerability. If left unchecked, psychosis leads to accumulating biological damage, social damage and psychological damage.”

In a study published in the high impact Nature Publishing Group journal Molecular Psychiatry, researchers tested psychiatric patients that they followed for over a decade.

They identified biomarkers that were predictive of high hallucinations and high delusions states, as well as future psychiatric hospitalizations related to hallucinations and delusions. They also studied which biomarkers are targets of existing drugs, which enables matching of patients to the right treatments.

The work builds on previous research over the last two decades by Niculescu and his colleagues on blood biomarkers for other psychiatric disorders (mood disorders, anxiety, post-traumatic stress disorder, suicidality risk, pain and memory disorders).

Niculescu said in general, the best biomarkers were more predictive than the standard scales used to evaluate someone with hallucinations or delusions, which means the use of this biomarker test can help reduce subjectivity and uncertainty from psychiatric assessments.

“Fortunately, biologically some of the existing medications work quite well if initiated early in the right patients,” Niculescu said.

“Social support is also paramount, and once that and medications are in place, psychological support and therapy can help as well. There is still plenty left to understand and apply about cognition and its abnormalities, but there is reason for optimism in this era of emerging precision psychiatry.”

Other study authors include M.D. Hill; Sumanpreet Singh Gill;Helen Le-Niculescu, PhD; O. MacKie; Rowan Bhagar; Kyle Roseberry, MD; Olivia Kay Murray; H.D. Dainton; S. K. Wolf; and Anantha Shekhar, MD, PhD of IU School of Medicine; and Sunil Kurian of the Scripps Research.

The test is anticipated to be available later this year from the IU spin-out company MindX Sciences. For more information about precision psychiatry and blood testing, visit the MindX Sciences website.

Funding:

This research was supported by the National Institutes of Health grant R01MH117431 and a VA Merit Award 2I01CX000139. The content is solely the responsibility of Indiana University School of Medicine and does not necessarily represent the official views of the National Institutes of Health or the VA

Abstract

Precision medicine for psychotic disorders: objective assessment, risk prediction, and pharmacogenomics

Psychosis occurs inside the brain, but may have external manifestations (peripheral molecular biomarkers, behaviors) that can be objectively and quantitatively measured. Blood biomarkers that track core psychotic manifestations such as hallucinations and delusions could provide a window into the biology of psychosis, as well as help with diagnosis and treatment.

We endeavored to identify objective blood gene expression biomarkers for hallucinations and delusions, using a stepwise discovery, prioritization, validation, and testing in independent cohorts design.

We were successful in identifying biomarkers that were predictive of high hallucinations and of high delusions states, and of future psychiatric hospitalizations related to them, more so when personalized by gender and diagnosis.

Top biomarkers for hallucinations that survived discovery, prioritization, validation and testing include PPP3CB, DLG1, ENPP2, ZEB2, and RTN4. Top biomarkers for delusions include AUTS2, MACROD2, NR4A2, PDE4D, PDP1, and RORA.

The top biological pathways uncovered by our work are glutamatergic synapse for hallucinations, as well as Rap1 signaling for delusions. Some of the biomarkers are targets of existing drugs, of potential utility in pharmacogenomics approaches (matching patients to medications, monitoring response to treatment).

The top biomarkers gene expression signatures through bioinformatic analyses suggested a prioritization of existing medications such as clozapine and risperidone, as well as of lithium, fluoxetine, valproate, and the nutraceuticals omega-3 fatty acids and magnesium.

Finally, we provide an example of how a personalized laboratory report for doctors would look. Overall, our work provides advances for the improved diagnosis and treatment for schizophrenia and other psychotic disorders.

Study Points to Possible Blood Test For Memory Decline, Alzheimer’s

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Scientist taking a blood sample tube from a rack.

A new study identified a set of 10 compounds in the blood that might be used to identify older adults at risk for developing memory deficits or Alzheimer’s disease. More research is needed to confirm the findings, but the study suggests one possible approach for the early identification and treatment of cognitive decline.

Alzheimer’s disease is a progressive brain disorder that affects older adults. It gradually destroys their ability to think and remember. Estimates vary, but Alzheimer’s disease may affect as many as 5 million people over age 65 in the U.S. That number is expected to more than triple by 2050.

Despite extensive research, there are no effective therapies for preventing Alzheimer’s disease or slowing its progression. Many experts believe that successful treatment will depend on early intervention before symptoms appear. However, there’s no sure way to identify pre-symptomatic Alzheimer’s disease. Brain scans and spinal fluid tests are now being evaluated to identify certain at-risk individuals. Scientists have been intensely searching for simpler ways to predict memory decline and Alzheimer’s disease well before signs of memory loss appear.

Dr. Howard Federoff of Georgetown University Medical Center and his colleagues decided to search for biomarkers of early-stage Alzheimer’s disease in circulating blood. They enrolled 525 healthy adults, ages 70 and older, in a 5-year observational study. The research was funded in part by NIH’s National Institute on Aging (NIA). Results appeared online on March 9, 2014, in Nature Medicine.

Cognitive tests at enrollment showed that 46 participants had previously undiagnosed mild Alzheimer’s disease or mild cognitive impairment that mostly affected memory. This type of memory loss is sometimes an early sign of Alzheimer’s disease. Over the course of the study, 28 people with normal memory eventually developed either mild Alzheimer’s disease or impaired memory. The researchers classified this group as “converters.”

In the study’s third year, the scientists used advanced technologies to analyze the blood of 53 participants (including 18 converters) who had either impaired memory or Alzheimer’s disease. The researchers also studied 53 cognitively normal age- and sex-matched participants for comparison. In an approach known as metabolomics, the scientists used mass spectrometry to sort through hundreds of blood-based chemicals, called metabolites, produced during the body’s everyday activities.

A series of analyses pinpointed 10 lipids, or fats, that differed between those who were cognitively impaired, healthy people who later “converted,” and participants who remained healthy. These lipid metabolites might represent the weakening of nerve cell membranes in the early stages of Alzheimer’s disease.

To validate their findings, the scientists tested the 10-lipid panel in a blinded analysis. The team evaluated blood from 40 separate participants, including 10 converters. The test could distinguish with 90% accuracy between cognitively normal participants who remained healthy and those who became impaired within 2 to 3 years.

“The preclinical state of the disease offers a window of opportunity for timely disease-modifying intervention,” Federoff says. “Biomarkers such as ours that define this asymptomatic period are critical for successful development and application of these therapeutics.” The researchers note that the biomarker panel would require further validation in larger, diverse populations before it could be used clinically.

New blood test method may predict Alzheimer’s disease

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At a Glance

  • A new blood testing technique could help researchers detect Alzheimer’s disease prior to onset or in those showing early signs of dementia.
  • The approach could be less invasive and costly than current brain imaging and spinal fluid tests, enabling earlier treatments and testing of novel approaches.

Older man getting blood drawn

Researchers are working to develop a blood test for detecting Alzheimer’s disease that would be less invasive and costly than current approaches.

Alzheimer’s disease is an age-related brain disorder that develops over many years. Toxic changes in the brain slowly destroy memory and thinking skills. Symptoms most often first appear when people are in their mid-60s. The disorder gets worse over time and eventually leads to severe loss of mental function.

The process that destroys the brain involves two proteins called beta-amyloid and tau. Beta-amyloid clumps into plaques, which slowly build up between brain cells. Abnormal tau accumulates inside brain cells, forming tangles.

Researchers have found that PET scans of the brain and lab tests of spinal fluid can reveal disease-related changes, or pathology, twenty years before the onset of symptoms. Although the disorder is not reversable, early treatment may help preserve daily functioning for some time. Early diagnosis would also enable testing of novel drugs and other treatment approaches. However, PET imaging is expensive and involves radioactive agents, and spinal fluid tests are invasive, complex, and time-consuming. Researchers are looking for simpler, more cost-effective tests.

A team led by Dr. Adam Boxer at the University of California, San Francisco investigated whether a new blood testing technique called Simoa could be used to measure the concentrations of tau and predict development of Alzheimer’s disease. The study was funded in part by NIH’s National Institute on Aging (NIA), National Institute of Neurological Disorders and Stroke (NINDS), and National Center for Advancing Translational Sciences (NCATS). Results were published online on March 2, 2020, in Nature Medicine.

The team collected blood samples from more than 400 people. They measured the concentration of ptau181—a modified version of tau that’s been linked with Alzheimer’s disease—in blood plasma, the liquid part of blood. Their analysis showed that the ptau181 in plasma differed between healthy participants and those with Alzheimer’s pathology confirmed in autopsies. The test could also differentiate Alzheimer’s pathology from a group of rare neurodegenerative diseases known collectively as frontotemporal lobar degeneration.

The results with the plasma ptau181 test also mirrored results with two established biomarker tests for Alzheimer’s—a spinal fluid ptau181 test and a PET brain scan for beta-amyloid protein.

A research team in Sweden reported similar findings in a second paper published in the same journal issue. Using the same plasma ptau181 test, they were able to differentiate between Alzheimer’s and other neurodegenerative diseases nearly as well as they could with a spinal fluid ptau181 test and a PET brain scan for tau protein. In addition, they followed participants for several years and observed that high levels of plasma ptau181 among those who were cognitively normal or had mild cognitive impairment could be used to predict later development of Alzheimer’s dementia.

“The considerable time and resources required for screening research participants with PET scans and spinal taps slow the pace of enrollment for Alzheimer’s disease treatment studies,” says NIA Director Dr. Richard J. Hodes. “The development of a blood test would enable us to rapidly screen a much larger and more diverse group of volunteers who wish to enroll in studies.

FDA Authorizes Blood Test for Assessing Risk of Hereditary Cancers

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Test tubes with shiny stretches of DNA inside
FDA has granted marketing authorization to a blood test that can identify changes in 47 genes that are linked to hereditary forms of cancer.

The Food and Drug Administration (FDA) has granted marketing authorization for a blood test that detects inherited genetic changes that may increase the risk of developing certain cancers. The test is the first of its kind to be granted marketing authorization, the agency announced on September 29.

The test, the Invitae Common Hereditary Cancers Panel, analyzes a person’s blood sample for changes in 47 genes that are linked to hereditary forms of cancer. FDA described the test as “an important public health tool that can offer individuals more information about their health, including possible predisposition to certain cancers.”

Up to 10% of cancers are thought to be caused by genetic changes that are passed from parent to child. Inheriting one of these changes does not mean that a person will develop cancer, but it increases the likelihood of the disease occurring. 

Doctors can use personal and family medical histories to identify people who may have an increased risk of developing cancer. For example, people who have several relatives who have had the same type of cancer might have an increased risk of developing cancer. 

For individuals suspected of having an increased risk of hereditary forms of cancer, the Invitae test can be used to confirm the presence or absence of hundreds of possible genetic changes, or variants, in the 47 target genes. 

“This test is intended for people who may have an increased risk of developing cancer to better understand what that level of risk is,” said Lori Minasian, M.D., deputy director of NCI’s Division of Cancer Prevention, who was not involved in the development of the test.

Individuals who are concerned about whether their family history puts them at risk for cancer should consult with a genetic counselor, Dr. Minasian added. The Invitae test is available only by prescription from a doctor. 

Using genetic test results to help guide medical care 

The test’s panel of 47 genes includes the BRCA1 and BRCA2 genes. Certain DNA changes in these genes increase the risk of hereditary forms of breast and ovarian cancer as well as several additional types of cancer.

The panel also includes MLH1, MSH2, MSH6, and PMS2, genes that are linked to Lynch syndrome, an inherited condition that increases the risk of developing various cancers. Some people with Lynch syndrome develop colorectal cancer in their 20s, which is much earlier in life than when screening for the disease typically begins.

Many tools for assessing a person’s risk of cancer, including genetic tests, have been developed in recent decades. “This particular test is the first to have undergone FDA’s critical review to demonstrate that it is safe and effective for its intended use,” Dr. Minasian said. 

To validate the test’s performance, Invitae researchers analyzed more than 9,000 samples from people known to have one of the genetic changes included in the test, achieving greater than 99% accuracy for all of the tested changes, according to the FDA. 

Individuals who learn from genetic testing that they have inherited cancer-related gene variants may be able to take steps to reduce the risk of the disease and detect it early, according to Wendy Rubinstein, M.D., Ph.D., a senior scientific officer in NCI’s Division of Cancer Prevention.

“The purpose of this type of genetic testing is to create opportunities for prevention and early detection in families affected by hereditary cancers,” said Dr. Rubinstein, who was previously a deputy director in the FDA office that cleared the Invitae test.

For instance, people who have inherited harmful variants in the BRCA1 or BRCA2 genes may have various options for reducing their cancer risk, including starting breast cancer screening at a younger age, undergoing risk-reducing surgery, and using medications that can lower risk.

Similarly, people who have inherited genetic variants linked to Lynch syndrome may start colorectal cancer screening earlier than recommended by guidelines and/or have more frequent screening to detect early signs of colorectal cancer. 

In addition to detecting inherited variants in people at risk of cancer, the test could also be used to identify variants in people who have already been diagnosed with cancer, the FDA said. Information about such variants might help inform decisions about how best to treat the disease. 

A new regulatory classification 

FDA announced that it had created a new regulatory classification for the Invitae test and future multigene panel tests that have the same intended uses. These tests are classified by the agency as devices and, as a result, are regulated differently than drugs.

Some users of the Invitae test might not realize that they could still have some risk of developing cancer even if they test negative, the agency cautioned. That’s because the test is not intended to evaluate all genes that are linked to an increased cancer risk, and many factors other than a person’s genetic makeup can contribute to the development of cancer. 

There’s also the potential for false-positive and false-negative results, which carry their own risks. Somebody who has a false-positive result, for example, might undergo an unnecessary treatment to reduce the likelihood of a cancer diagnosis.

But, in the case of any test cleared under this regulatory classification, these risks are lessened by “the analytical performance validation, clinical validation, and appropriate labeling of this test,” according to FDA. 

Revealing new variants that may be involved in cancer 

Invitae’s test uses next-generation sequencing to check for changes in the 47 target genes. To interpret the test results, the company uses evidence from various sources, including information from published studies, public databases, prediction programs, and Invitae’s internal curated database of cancer-related genetic variants, explained Jim McKinney, an FDA spokesperson.

An illustration depicting the process by which the biosensor bacteria grab and take up tumor DNA

“New variants may be identified when testing patients,” Mr. McKinney said, adding that thousands of inherited variants in the BRCA1 and BRCA2 genes have been identified. 

The clinical significance of some newly identified variants may not be readily apparent, at least at first. But over time, researchers may learn more about these so-called variants of unknown significance and whether they might contribute to an increased risk of hereditary cancer.

“As research progresses, we can learn that a variant of unknown significance may actually have some probability of increasing the risk of cancer,” Dr. Minasian said.
 
She pointed to a recent study in which several participants were found to have variants of unknown significance when the research began. But as time passed, researchers learned more about the cancer risk associated with these variants, and Dr. Minasian’s team was able to share this information with the study participants.
 
“When we study potential risk variants, we collect information in real time,” Dr. Minasian said. “Then, as more evidence accumulates, we may discover what these variants could mean for the people who inherit them.”

The Invitae test results may include variants of unknown significance. When one of these variants is reclassified in a way that informs decisions about clinical care, the company provides the prescribing physician and the patient with an updated report, according to an Invitae spokesperson. 

Simple blood test can help detect bipolar disorder, avoid high number of misdiagnoses

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 A new study suggests that a simple blood test can significantly aid in diagnosing bipolar disorder. Developed by researchers at Cambridge University, this innovative approach enhances the accuracy of diagnosing the mental health condition characterized by extreme mood swings.

To diagnose bipolar disorder — often misidentified as major depressive disorder — the research team combined an online psychiatric assessment with a blood test. The results indicate that the blood test alone could accurately diagnose up to 30 percent of bipolar disorder patients. However, its effectiveness improves substantially when combined with a digital mental health assessment.

Incorporating biomarker testing into the diagnostic process enables physicians to distinguish between major depressive disorder and bipolar disorder. These two conditions share symptoms but necessitate distinct pharmacological treatments. While the blood test is currently a proof of concept, the researchers believe it could significantly augment existing psychiatric diagnostic tools and enhance our comprehension of the biological underpinnings of mental health conditions.

Bipolar disorder affects approximately one percent of the global population, translating to as many as 80 million individuals. Unfortunately, the condition is misdiagnosed as major depressive disorder in nearly 40 percent of cases, a misstep that this study, published in JAMA Psychiatry, seeks to rectify.

“People with bipolar disorder will experience periods of low mood and periods of very high mood or mania,” says first author Dr. Jakub Tomasik, from Cambridge’s Department of Chemical Engineering and Biotechnology, in a media release. “But patients will often only see a doctor when they’re experiencing low mood, which is why bipolar disorder frequently gets misdiagnosed as major depressive disorder.”

“When someone with bipolar disorder is experiencing a period of low mood, to a physician, it can look very similar to someone with major depressive disorder,” adds Professor Sabine Bahn, who led the research. “However, the two conditions need to be treated differently: if someone with bipolar disorder is prescribed antidepressants without the addition of a mood stabilizer, it can trigger a manic episode.”

depression mental illness
(Credit: Andrew Neel from Pexels)

Bahn advocates for comprehensive psychiatric assessments for accurate bipolar disorder diagnoses, despite their associated long waiting times and extensive durations.

“Psychiatric assessments are highly effective, but the ability to diagnose bipolar disorder with a simple blood test could ensure that patients get the right treatment the first time and alleviate some of the pressures on medical professionals,” Tomasik says.

The research utilized samples and data from the UK’s Delta study, conducted between 2018 and 2020, focusing on patients diagnosed with major depressive disorder in the past five years and currently exhibiting depressive symptoms. Over 3,000 participants were involved, each completing an extensive online mental health assessment comprising over 600 questions spanning various topics pertinent to mental health disorders.

Approximately 1,000 participants proceeded to submit dried blood samples using a simple finger prick, analyzed by the researchers for over 600 different metabolites. The final study sample included 241 participants. The analysis revealed a significant biomarker signal for bipolar disorder, persisting even after accounting for potential confounding factors such as medication.

The biomarkers primarily correlated with lifetime manic symptoms. Ultimately, the study concluded that combining patient-reported information with the biomarker test “significantly improved” diagnostic outcomes for bipolar disorder, particularly in ambiguous cases.

“The online assessment was more effective overall, but the biomarker test performs well and is much faster,” Bahn explains. “A combination of both approaches would be ideal, as they’re complementary.”

“We found that some patients preferred the biomarker test, because it was an objective result that they could see,” Tomasik reports. “Mental illness has a biological basis, and it’s important for patients to know it’s not in their mind. It’s an illness that affects the body like any other.”

“In addition to the diagnostic capabilities of biomarkers, they could also be used to identify potential drug targets for mood disorders, which could lead to better treatments,” Bahn concludes. “It’s an exciting time to be in this area of research.”

A patent has been filed on the research by Cambridge Enterprise, the University’s commercialization arm.

New blood test shows promise in detecting 18 types of cancer

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  • Researchers report that a new blood test detected 93% of stage 1 cancers in men and 84% among women.
  • The researchers used the test to analyze a wide range of protein-based biomarkers.
  • They said the test detected cancer for many forms of the disease for which no effective screenings now exist.

A new blood test could be used for early detection of 18 different types of cancer, a new study published in the journal BMJ Oncology reports.

In developing the test, the researchers focused on the proteomeTrusted Source — the complete collection of proteins in the body.

The gender-specific liquid biopsy testTrusted Source, which analyzes the presence of protein biomarkers for various types of cancer in the bloodstream, was able to successfully detect stage 1 cancers 93% of the time among men and 84% of the time among women, according to the research led by Dr. Ashkan Afshin, an affiliate associate professor of health metrics sciences at the University of Washington’s Institute for Health Metrics and Evaluation.

The analysis of 150 biomarkers also allowed researchers to pinpoint the origin of cancers to specific organs in more than 80% of cases, Afshin and colleagues reported.

“The proteome-based screening test showed promising performance compared with other technologies and could be a starting point for developing a new generation of screening tests for the early detection of cancer,” the study authors wrote.

“Early detection is the key to good cancer outcomes,” Dr. Misagh Karimi, a medical oncologist at City of Hope Orange County Lennar Foundation Cancer Center in California, told Medical News Today.

“The possibility of being able to identify 18 different early-stage cancers, as described in this new study, is a potential game-changer that could lead to innovation in screenings, targeted treatments, and more,” said Karimi, who was not involved in the study. “However, this is an evolving area of research in which further studies on multi-cancer early detection tests need to be done.”

Analyzing biomarkers to detect cancer

In the study, researchers collected blood plasma samples from 440 people diagnosed with 18 different types of cancer, prior to their receiving treatment for the diseases. Plasma samples also were collected from 44 blood donors who did not have a cancer diagnosis.

The plasma samples were initially measured for more than 3,000 proteins known to be associated with cancer. From these, a panel of 10 sex-specific protein biomarkers was established.

Researchers noted that, individually, these proteins were only moderately accurate at detecting early stage cancers. However, accuracy increased dramatically when the biomarkers were analyzed collectively.

The blood tests detected stage 1, 2, and 3 cancers, Afshin and colleagues said, but were especially effective at detecting early stage cancers.

The ability to identify low levels of cancer biomarkers before tumors have had any significant systemic impact on the body could be a major boost to cancer treatment, the study authors noted.

“A sex-specific test that can detect cancer at an earlier stage would get patients onto treatment before the cancer has had a chance to spread and when there are generally more treatment options,” said Karimi.

“A person’s gender can influence their molecular susceptibility for getting cancer,” he added. “And sex hormones also affect the development of various cancers. More men get cancer than women and men have higher mortality rates than women for most cancers, including bladder, kidney, colorectal, liver, esophagus, head and neck, brain, skin and blood.”

Cancer detection through genetic and protein biomarkers

Using biomarkers in the blood to detect cancer is not new.

For example, a blood test has been developed that uses genetic biomarkers to detect more than 50 types of cancer.

However, these tests are not significantly accurate at detecting early stage cancers and remain too expensive to be used for routine screening, according to Afshin and his colleagues.

“A simple, inexpensive blood test that could identify the existence of early-stage cancers in patients would definitely improve upon current screening tools, particularly in younger patients for whom cancer may be an uncommon but not entirely infrequent occurrence and for whom screening protocols are not applied because of the poor predictive value,” Dr. Mary E. Edgerton, a professor in the Department of Pathology, Microbiology, and Immunology at the University of Nebraska Medical Center who was not involved in the study, told Medical News Today. “Such testing could also replace expensive screening by imaging, reduce radiation exposure due to image-based screening, and potentially eliminate invasive screening procedures (e.g., colonoscopy).”

However, she said, “this exciting step forward could only be achieved if the tests are proven to be sensitive and specific in the larger population… For less common cancers, or age groups with less prevalence, this requires very high specificity and sensitivity to overcome the problems of false discoveries overwhelming the number of people with actual disease. A screening test without sufficient positive predictive value could lead to unnecessary and possibly invasive tests in patients that would decrease its value.”

The most common of existing protein-based blood tests identifies prostate specific antigen for prostate cancer screening. Others are used to guide breast, ovarian, and colorectal cancer treatment.

Biomarkers can also be used to diagnose several individual types of cancer, such as cancers of the liver and lungs.

Blood test would be a first for some types of cancer

However, the study noted, nearly 60% of cancer-related deaths are due to cancers for which no screening tests currently exist.

“These [tests] will ultimately serve a similar benefit as current [ones] that contain DNA, RNA, and proteins to identify not only individuals with cancer, but those that may have increased risk,” Dr. Richard Reitherman, a radiologist and medical director of breast imaging at the Orange Coast Medical Center’s MemorialCareBreast Center in California who was not involved in the study, told Medical News Today. “This ultimately may be at a time when the cancer is not detectible by any other means.”

“Additional cancer diagnostic and screening tools need to be developed that are accessible and available to patients. Researchers are making progress in this area – blood tests have been developed that screen for some cancers, but they are not accessible to everyone,” said Karimi, who noted that City of Hope has developed a blood test that can be used to detect early-onset colorectal cancer.

“If such a test were to be validated in a larger population and the detection kits developed as an inexpensive option… this would be a giant step forward in cancer screening,” said Edgerton. “It could hypothetically become part of a yearly physical examination.”

However, she cautioned that the small size of the current study and the continued possibility of false positive results mean “this publication is far from demonstrating that this concept has achieved realization now.”

In addition to blood testing, individuals also can get genetic tests for known hereditary risk factors for particular types of cancer.

“Knowing if you carry genes for a particular kind of cancer can ensure you are screened often and receive timely and appropriate treatment,” said Karimi.

A simple blood test reveals if you’re dealing with anxiety

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 Anxiety is a feeling that’s hard to describe, let alone objectively measure. In many cases, anxious feelings creep up on people before they have a chance to recognize what’s happening. Now, however, scientists at Indiana University have successfully developed a blood test capable of measuring anxiety.

The test analyzes biomarkers that can objectively determine someone’s risk of developing anxiety, the severity of their current anxiety, and which therapies would probably treat their anxiety in the most effective manner. Researchers have already validated the new test and they’re currently developing it for wider use by physicians at MindX Sciences.

“Many people are suffering from anxiety, which can be very disabling and interfere with daily life,” says professor of psychiatry Alexander Niculescu, MD, PhD, in a university release. “The current approach is to talk to people about how they feel to see if they could be on medications, but some medications can be addictive and create more problems. We wanted to see if our approach to identify blood biomarkers could help us match people to existing medications that will work better and could be a non-addictive choice.”

Earlier research conducted by Prof. Niculescu has helped develop blood tests for pain, depression, bipolar disorder, and post-traumatic stress disorder. This latest study followed a similar approach for anxiety. Researchers assessed three independent groups: discovery, validation, and testing. Participants underwent a blood test every three to six months, or whenever they experienced a new psychiatric hospitalization.

The test matches people with the best treatments for their condition

By examining RNA biomarkers present in the blood, researchers were able to identify a patient’s current state of anxiety. Moreover, the process even “matched” patients up with specific medications and nutraceuticals, according to how effective different options may be for them according to their personal biology.

“In addition to medications, there are other methods to treat anxiety, such as cognitive behavioral therapy or lifestyle changes,” Prof. Niculescu adds. “But having something objective like this where we can know what someone’s current state is as well as their future risk and what treatment options match their profile is very powerful in helping people.”

Blood test tubes in lab
Belova59 / pixabay.com

An individual’s biomarkers can change over time, researchers note. Prof. Niculescu says the test can help evaluate a person’s risk of developing higher levels of anxiety in the future, as well as how other factors may impact that anxiety, such as hormonal changes.

“There are people who have anxiety and it is not properly diagnosed, then they have panic attacks, but think they’re having a heart attack and up in the ER with all sorts of physical symptoms,” Prof. Niculescu notes. “If we can know that earlier, then we can hopefully avoid this pain and suffering and treat them earlier with something that matches their profile.”

This could lead to personalized medications

In conclusion, Prof. Niculescu believes this new test could potentially work in combination with other blood tests his research has helped create to produce a more comprehensive view of a patient’s overall mental health and risk of mental health problems in the future. The test could also contribute to the development of new treatments for anxiety that focus on individual biomarkers.

“This is something that could be a panel test as part of a patient’s regular wellness visits to evaluate their mental health over time and prevent any future distress,” Prof. Niculescu concludes. “Prevention is better in the long run, so our goal is to be able to provide a comprehensive report for patients and their physicians using simply one tube of blood.”

The findings appear in the journal Molecular Psychiatry.