The focus of the ongoing GenoVA study is to “determine the clinical effectiveness of polygenic risk score testing among patients at high genetic risk for at least one of six diseases measured by time-to-diagnosis of prevalent or incident disease over 24 months,” according to the National Institutes of Health.
The scientists used data obtained from 36,423 patients enrolled in the Mass General Brigham Biobank. The six diseases they researched were:
The polygenic scores were then tested among 227 healthy adult patients to determine their risk for the six diseases. The researchers found that:
11% of the patients had a high-risk score for atrial fibrillation,
7% for coronary artery disease,
8% for diabetes, and
6% for colorectal cancer.
Among the subjects used for the study:
15% of the men in the study had a high-risk score for prostate cancer, and
13% of the women in the study had a high score for breast cancer.
The researchers concluded that the implementation of PRS may help improve disease prevention and management and give doctor’s a way to assess a patient’s risk for these conditions. They published their findings in the journal Nature Medicine, titled, “Development of a Clinical Polygenic Risk Score Assay and Reporting Workflow.”
“We have shown that [medical] laboratory assay development and PRS reporting to patients and physicians are feasible … As the performance of PRS continues to improve—particularly for individuals of underrepresented ancestry groups—the implementation processes we describe can serve as generalizable models for laboratories and health systems looking to realize the potential of PRS for improved patient health,” the researchers wrote.
Using PRS in Clinical Decision Support
Polygenetic risk scores examine multiple genetic markers for risk of certain diseases. A calculation based on hundreds or thousands of these genetic markers could help doctors and patients make personalized treatment decisions, a core tenet of precision medicine.
“As a primary care physician myself, I knew that busy physicians were not going to have time to take an entire course on polygenic risk scores. Instead, we wanted to design a lab report and informational resources that succinctly told the doctor and patient what they need to know to make a decision about using a polygenic risk score result in their healthcare,” epidemiologist Jason Vassy, MD, told The Harvard Gazette. Vassy is Associate Professor, Harvard Medical School at VA Boston Healthcare System and one of the authors of the research.
“This is another great example of precision medicine,” Jason Vassy, MD (above), Adjunct Assistant Professor, General Internal Medicine at Boston University School of Medicine, told WebMD. “There’s always been a tantalizing idea that someone’s genetic makeup might help tailor preventative medicine and treatment.” Personalized clinical laboratory testing is increasingly becoming based on an individual’s genetics. (Photo copyright: Harvard Medical School.)
Increasing Diversity of Patients in Genomic Research
The team did encounter some challenges during their analysis. Because most existing genomic research was performed on persons of European descent, the risk scores are less accurate among non-European populations. The researchers for this study addressed this limitation by applying additional statistical methods to qualify accurate PRS calculations across multiple racial groups.
“Researchers must continue working to increase the diversity of patients participating in genomics research,” said Matthew Lebo, PhD, Chief Laboratory Director, Laboratory Molecular Medicine, at Mass General Brigham and one of the authors of the study. “In the meantime, we were heartened to see that we could generate and implement valid genetic scores for patients of diverse backgrounds,” he told The Harvard Gazette.
The team hopes the scores may be utilized in the future to help doctors and patients make better decisions regarding preventative care and screenings.
“It’s easy to say that everyone needs a colonoscopy at age 45,” Vassy told WebMD. “But what if you’re such a low risk that you could put it off for longer? We may get to the point where we understand risk so much that someone may not need one at all.”
Future of PRS in Clinical Decision Making
The scientists plan to enroll more than 1,000 patients in a new program and track them for two years to assess how medical professionals use PRS in clinical care. It is feasible that patients who are at high risk for certain diseases may opt for more frequent screenings or take preventative medicines to mitigate their risk.
“Getting to that point will take time,” Vassy added. “But I can see this type of information playing a role in shared decision making between doctor and patient in the near future.”
The team also established resources and educational materials to assist both doctors and patients in using the scores.
“It’s still very early days for precision prevention,” Vassy noted, “but we have shown it is feasible to overcome some of the first barriers to bringing polygenic risk scores into the clinic.”
More research and studies are needed to prove the effectiveness of using PRS tests in clinical care and determine its role in customized treatment plans based on personal genetics. Nevertheless, pathologists and medical scientists will want to follow the GenoVA study.
“It is probably most helpful to think of polygenic risk scores as a risk factor for disease, not a diagnostic test or an indication that an individual will certainly develop the disease,” Vassy said. “Most diseases have complex, multifactorial etiologies, and a high polygenic risk score is just one piece of the puzzle.”
Pathologists and clinical laboratory managers may want to stay informed as researchers in the GenoVA study tease new useful diagnostic insights from their ongoing study of the whole human genome. Meanwhile, the GenoVA team is moving forward with the 1,000-patient study with the expectation that this new knowledge may enable earlier and more accurate diagnoses of the health conditions that were the focus of the GenoVA study.
Findings are ‘a vital first step in discovering potentially valuable targets for development of new [COVID-19] treatments,’ noted co-first author of the study
Researchers at King’s College London (KCL) have determined that levels of certain blood proteins specific to each person’s blood type can be “causally linked” to an increased risk of hospitalization and death from a COVID-19 infection. The scientists also found that a person’s genetics play a key role in establishing the levels of those proteins in the blood.
This is relevant for clinical laboratories—particularly hospital/health system laboratories—because testing for specific proteins in the blood by medical laboratories could help flag incoming patients at higher risk for an acute COVID-19 infection.
Also, “By identifying this suite of proteins, the research has highlighted a number [of] possible targets for drugs that could be used to help treat severe COVID-19,” noted a KCL news release.
Identifying certain drugs that would be more effective for specific individuals or healthcare groups is a core goal of precision medicine.
“We have used a purely genetic approach to investigate a large number of blood proteins and established that a handful have causal links to the development of severe COVID-19,” said Alish Palmos, PhD (above), Postdoctoral Research Associate, King’s College London Social, Genetic and Developmental Psychiatry Center, and co-first author of the study. “Honing in on this group of proteins is a vital first step in discovering potentially valuable targets for development of new treatments.” Medical laboratories may soon be able to use this knowledge as a way to determine risk for severe COVID-19 hospitalization, as well as to guide decisions on how to use new precision medicine drugs for combating the infection. (Photo copyright: Twitter.)
Genetic Variants Linked to Causality
Since the COVID-19 pandemic began in late 2019, scientists and researchers have been vigorously trying to understand the SARS-CoV-2 coronavirus and determine why some patients have more severe symptoms than others.
To conduct their study, the KCL researchers screened more than 3,000 blood proteins to identify which proteins have a causal link to hospitalization risk, the need for respiratory support, and death from a severe COVID-19 infection.
“Causality between exposure and disease can be established because genetic variants inherited from parent to offspring are randomly assigned at conception similar to how a randomized controlled trial assigns people to groups,” said Vincent Millischer, MD, PhD, Medical University of Vienna and co-first author of the study in the KCL news release.
“In our study, the groups are defined by their genetic propensity to different blood protein levels, allowing an assessment of causal direction from high blood protein levels to COVID-19 severity whilst avoiding influence of environmental effects,” he added.
The scientists selected genetic variants, known as single nucleotide polymorphisms, that were strongly associated with blood protein levels. They then performed their analysis using Mendelian randomization to test the causal associations of those blood proteins with the development of severe COVID-19 infections.
“Mendelian randomization uses genetic variants associated with a trait [e.g., protein level] and measures their causal effect on disease outcomes, [avoiding] environmental confounding factors, such as lifestyle, being physically ill, etc.,” Alish Palmos, PhD, told Medical News Today. Palmos is a Postdoctoral Research Associate at King’s College London’s Social, Genetic, and Developmental Psychiatry Center and co-first author of the study.
Blood Groups Linked to COVID-19 Hospitalization, Death
One of the most important findings of the KCL research is a causal association between COVID-19 severity and an enzyme called ABO, which determines blood type. This discovery suggests that blood groups perform an instrumental role in whether individuals develop severe forms of the illness.
“The enzyme helps determine the blood group of an individual and our study has linked it with both risk of hospitalization and the need of respiratory support or death,” said Christopher Hübel, PhD, Postdoctoral Research Associate, King’s College and co-last author of the study in the press release. “Our study does not link precise blood group with risk of severe COVID-19, but since previous research has found that proportion of people who are group A is higher in COVID-19 positive individuals, this suggests that blood group A is more likely candidate for follow-up studies.”
The KCL researchers uncovered several compelling findings regarding blood proteins and COVID-19, including:
The discovery of six blood markers that were significantly associated with an elevated risk of hospitalization.
The discovery of nine blood markers that were significantly associated with a decreased risk of hospitalization.
Consistent results indicating hospitalization being significantly associated with decreased levels of macrophage inflammatory protein.
Five blood markers associated with the need for respiratory support or death.
Eight blood markers causally associated with a statistically significantly decreased risk of need for respiratory support or death.
Consistent results with respiratory support or death being significantly causally associated with decreased levels of neprilysin.
Developing New COVID-19 Treatments and Preventative Therapies
“What we have done in our study is provide a shortlist for the next stage of research,” said Gerome Breen, PhD, in the KCL news release. Breen is Professor of Psychiatric Genetics at King’s College London’s Institute of Psychiatry, Psychology and Neuroscience, and co-last author of the study.
“Out of 1000s of blood proteins we have whittled it down to about 14 that have some form of causal connection to the risk of severe COVID-19 and present a potentially important avenue for further research to better understand the mechanisms behind COVID-19 with an ultimate aim of developing new treatments but potentially also preventative therapies,” he added.
Further research and clinical investigation are needed to validate the King’s College London researchers’ findings. However, their insights could result in new clinical laboratory tests and personalized treatments for COVID-19.
27th annual meeting of medical laboratory and pathology managers delivers insights on the path ahead for diagnostics, ranging from the supply chain shortage and the ‘Great Resignation’ to advances in artificial intelligence and whole genome sequencing in service of precision medicine
What’s coming as healthcare providers move to post-COVID-19 pandemic workflows will be of keen interest to clinical laboratory leaders attending this critical event. Several new and dynamic market changes are reshaping the development of, ordering, and reimbursement for medical laboratory tests. They include:
Millennials as change agents in how care is accessed and delivered.
New buyers of large volumes of clinical lab tests, such as retail pharmacies.
How clinical laboratories can earn new sources of revenue while supporting precision medicine.
Clinical Labs Should Prepare for the ‘Coming Roller Coaster Ride’
Robert L. Michel, Editor-in-Chief of Dark Daily’s sister publication, The Dark Report, and Founder of the Executive War College, described the “coming roller coaster ride” for the pathology and clinical laboratory industries.
Amid the usual operational issues labs deal with (e.g., workforce shortages, supply chain disruptions, regulatory pressures), he noted the emergence of new and powerful forces pulling clinical laboratories and pathology groups in all directions.
“One primary factor is how Millennials will use healthcare differently than Gen Xers and Baby Boomers,” Michel noted. “Similarly, Millennials will make up 75% of the pathologists and the lab workforce by 2025.
“Another major force for change will be new buyers of clinical laboratory tests,” he continued. “For example, expect to see national retail pharmacy chains build thousands of primary care clinics in their retail pharmacies. These clinics will need lab tests and will become major buyers of near-patient analyzers and lab tests.
“A third interesting factor is that a new class of in vitro diagnostics (IVD) manufacturers are developing analyzers and test systems that use minimal amounts of specimens and return answers in minutes. Primary care clinics in retail pharmacies will be interested in buying these lab testing solutions,” Michel concluded.
Robert L. Michel (above), Editor-in-Chief of The Dark Report and Founder of the Executive War College, has studied and worked with leaders of clinical laboratories and pathology groups for more than four decades. During his keynote address, he predicted that powerful economic forces are about to be unleashed on the traditional market for clinical laboratory testing. Those forces include the use of artificial intelligence (AI) in digital pathology, primary care in retail pharmacies, and increased focus on precision medicine. (Photo copyright: The Dark Intelligence Group.)
Peer-to-Peer Learning Opportunities
With approximately 90 presenters scheduled, clinical laboratory leaders from such prestigious institutions as Johns Hopkins Hospital, Mayo Clinic, United Indian Health Services, and more will facilitate peer-to-peer learnings throughout the conference.
In addition, several sessions and panel Q/A discussions will cover critical legal and regulatory issues and payer challenges facing the industry.
New Technologies, Workflows, Analytics
The 2022 Executive War College master classes, breakouts, panel discussions, and benefactor sessions will highlight several significant themes:
Lab data analytics and utilization. Sessions this year are heavily weighted toward data analytics, aggregation, and utilization. Look for case studies demonstrating the value of lab data, and where and how data has become actionable and monetized. As Dark Daily previously reported, useful data structures have been difficult to achieve for clinical laboratories; however, the case studies featured during this week’s conference will demonstrate signs of progress and highlight lessons learned.
Automation. Several case studies are planned that focus on expansion and modernization using laboratory automation. From Butler Health System, an independent hospital system in western Pa., Robert Patterson, MD, Medical Director of Pathology, Laboratory Medicine, and Laboratory Outreach, will detail steps Butler took that enabled its labs to better compete with other area health systems and national reference laboratories. Likewise, Eric Parnell, System Supervisor of Microbiology for Bronson Healthcare in southern Mich., will discuss his lab’s transition to and implementation of total laboratory automation.
Genetic testing and next-generation sequencing (NGS). Quickly becoming the foundational disruptor technology on which many new and powerful clinical laboratory tests and procedures are based, genomic testing has now become accessible and affordable. Many clinical laboratories and pathology groups are using molecular diagnostics testing to deliver clinical value to referring physicians.
Other sessions include:
Launching and scaling clinical NGS testing in a clinical environment (featuring a project at Rady Children’s Hospital in San Diego).
How labs and payers can work together to achieve better outcomes and health equity using genomic testing.
Effective ways to repurpose PCR and other genetic test instruments to build specimen volume and increase lab revenue.
Paths Forward for Clinical Labs and Pathology Groups
Another important topic being discussed at the 2022 Executive War College is how to position clinical laboratories and pathology groups for the next phase of modern healthcare.
Attracting capital for clinical labs and pathology groups.
Emerging concepts in growth strategies.
Business valuation factors.
Unexpected disruptions during sales closings.
These are just a few highlights of the informative sessions and expert speakers scheduled during this week’s 27th annual Executive War College in New Orleans. Look for more coverage in Dark Daily during the days ahead and in upcoming editions of our sister publication The Dark Report.
Full details about the 2022 Executive War College can be found by clicking on this link. (Or copy/paste this URL into your web browser: http://www.executivewarcollege.com.)
Speakers, session topics, and the conference agenda can be viewed by clicking on this link. (Or copy/paste this URL into your web browser: https://executivewarcollege.darkintelligencegroup.com/executive-war-college-agenda-2022.)
Should the test prove clinically viable, it could lead to new biomarkers for eye disease diagnostics and a new assay for clinical laboratories
Scientists at Flinders University in Australia have developed a genetic blood or saliva test that, they say, is 15 times more effective at identifying individuals at high risk of glaucoma than current medical laboratory tests.
If so, this discovery could lead to new biomarkers for diagnostic blood tests that help medical professionals identify and treat various diseases of the eye. Their test also can be performed on saliva samples. The researchers plan to launch a company later in 2022 to generate an accredited test that can be used in clinical trials.
“Early diagnosis of glaucoma can lead to vision-saving treatment, and genetic information can potentially give us an edge in making early diagnoses, and better treatment decisions,” said lead researcher Owen Siggs, PhD, Associate Professor, College of Medicine and Public Health at Flinders University, in a university press release.
Flinders University researchers have been collaborating with scientists at the QIMR Berghofer Medical Research Institute and other research institutes worldwide for some time to identify genetic risk factors for glaucoma, the press release noted.
“In the cross-sectional study of monogenic and polygenic variants related to the disease, the new genetic test was evaluated in 2,507 glaucoma patients in Australia and 411,337 people with or without glaucoma in the UK. The test, conducted using a blood or saliva sample, could potentially detect individuals at increased risk before irreversible vision loss happens,” Medical Device Network reported.
“Genetic testing is not currently a routine part of glaucoma diagnosis and care, but this test has the potential to change that,” said Jamie Craig, PhD, (above), Distinguished Professor, College of Medicine and Health at Flinders University in Australia and senior author of the study, in a press release. “We’re now in a strong position to start testing this in clinical trials,” he added. This is yet another example of how new research is identifying a novel biomarker that could be incorporated into a clinical laboratory test. (Photo copyright: Flinders University.)
Who Is at Risk for Glaucoma?
Glaucoma is a group of eye diseases that are typically caused by a buildup of pressure within the eye. The eyeball contains and produces a fluid called aqueous humour which provides nutrition to the eye and keeps the eye in a proper pressurized state. Any excess of this fluid should be automatically released via a drainage canal called the trabecular meshwork.
But that’s not always the case. When the fluid cannot drain properly, intraocular pressure is created. Most forms of glaucoma are characterized by this pressure, which can damage the optic nerve and eventually cause vision loss and even blindness. Treatments for the disease include medications, laser treatments, and surgery.
Anyone can develop glaucoma, but according to the Mayo Clinic, individuals at higher risk of the disease include:
Individuals over the age of 60.
Those with a family history of glaucoma.
People of African, Asian, or Hispanic descent.
Patients with certain medical conditions, such as diabetes, heart disease, high blood pressure, and sickle cell anemia.
Those with corneas that are thin in the center.
Individuals who have had a past eye injury or certain types of eye surgery.
People who have taken corticosteroid medications, especially eyedrops, for an extended period of time.
Glaucoma is the second leading cause of blindness worldwide, particularly among the elderly. When diagnosed early, the condition is manageable, but even with treatment, about 15% of glaucoma patients become blind in at least one eye within 20 years.
According to the federal Centers for Disease Control and Prevention (CDC), approximately three million Americans are living with glaucoma. The disease often has no early symptoms, which is why it is estimated that about 50% of individuals who have glaucoma do not realize they have the illness.
Thus, a clinically-viable genetic test that is 15 times more likely to identify people at risk for developing glaucoma in its early stages would be a boon for ophthalmology practices worldwide and could save thousands from going blind.
More research and clinical trials are needed before the Flinders University genetic test for glaucoma becomes available. But the discovery alone demonstrates the importance of continuing research into identifying novel biomarkers that could be incorporated into useful clinical laboratory diagnostic tests.
Researchers say their method can trace ancestry back 100,000 years and could lay groundwork for identifying new genetic markers for diseases that could be used in clinical laboratory tests
Cheaper, faster, and more accurate genomic sequencing technologies are deepening scientific knowledge of the human genome. Now, UK researchers at the University of Oxford have used this genomic data to create the largest-ever human family tree, enabling individuals to trace their ancestry back 100,000 years. And, they say, it could lead to new methods for predicting disease.
This new database also will enable genealogists and medical laboratory scientists to track when, where, and in what populations specific genetic mutations emerged that may be involved in different diseases and health conditions.
New Genetic Markers That Could Be Used for Clinical Laboratory Testing
As this happens, it may be possible to identify new diagnostic biomarkers and genetic indicators associated with specific health conditions that could be incorporated into clinical laboratory tests and precision medicine treatments for chronic diseases.
“We have basically built a huge family tree—a genealogy for all of humanity—that models as exactly as we can the history that generated all the genetic variation we find in humans today,” said Yan Wong, DPhil, an evolutionary geneticist at the Big Data Institute (BDI) at the University of Oxford, in a news release. “This genealogy allows us to see how every person’s genetic sequence relates to every other, along all the points of the genome.”
Researchers from University of Oxford’s BDI in London, in collaboration with scientists from the Broad Institute of MIT and Harvard; Harvard University, and University of Vienna, Austria, developed algorithms for combining different databases and scaling to accommodate millions of gene sequences from both ancient and modern genomes.
“Essentially, we are reconstructing the genomes of our ancestors and using them to form a series of linked evolutionary trees that we call a ‘tree sequence,’” said geneticist Anthony Wilder Wohns, PhD (above), in the Oxford news release. Wohns, a postdoctoral researcher in statistical and population genetics at the Broad Institute, led the study. “We can then estimate when and where these ancestors lived. The power of our approach is that it makes very few assumptions about the underlying data and can also include both modern and ancient DNA samples.” The study may result in new genetic biomarkers that lead to advances in clinical laboratory diagnostics for today’s diseases. (Photo copyright: Harvard School of Engineering and Applied Sciences.)
Tracking Genetic Markers of Disease
The BDI team overcame the major obstacle to tracing the origins of human genetic diversity when they developed algorithms to handle the massive amount of data created when combining genome sequences from many different databases. In total, they compiled the genomic sequences of 3,601 modern and eight high-coverage ancient people from 215 populations in eight datasets.
The ancient genomes included three Neanderthal genomes, a Denisovan genome, and a family of four people who lived in Siberia around 4,600 years ago.
The University of Oxford researchers noted in their news release that their method could be scaled to “accommodate millions of genome sequences.”
“This structure is a lossless and compact representation of 27 million ancestral haplotype fragments and 231 million ancestral lineages linking genomes from these datasets back in time. The tree sequence also benefits from the use of an additional 3,589 ancient samples compiled from more than 100 publications to constrain and date relationships,” the researchers wrote in their published study.
Wong believes his research team has laid the groundwork for the next generation of DNA sequencing.
“As the quality of genome sequences from modern and ancient DNA samples improves, the tree will become even more accurate and we will eventually be able to generate a single, unified map that explains the descent of all the human genetic variation we see today,” he said in the news release.
Developing New Clinical Laboratory Biomarkers for Modern Diagnostics
In a video illustrating the study’s findings, evolutionary geneticist Yan Wong, DPhil, a member of the BDI team, said, “If you wanted to know why some people have some sort of medical conditions, or are more predisposed to heart attacks or, for example, are more susceptible to coronavirus, then there’s a huge amount of that described by their ancestry because they’ve inherited their DNA from other people.”
Wohns agrees that the significance of their tree-recording methods extends beyond simply a better understanding of human evolution.
“[This study] could be particularly beneficial in medical genetics, in separating out true associations between genetic regions and diseases from spurious connections arising from our shared ancestral history,” he said.
The underlying methods developed by Wohns’ team could have widespread applications in medical research and lay the groundwork for identifying genetic predictors of disease risk, including future pandemics.
Clinical laboratory scientists will also note that those genetic indicators may become new biomarkers for clinical laboratory diagnostics for all sorts of diseases currently plaguing mankind.
MicroRNAs in urine could prove to be promising biomarkers in clinical laboratory tests designed to diagnose brain tumors regardless of the tumor’s size or malignancy, paving the way for early detection and treatment
Researchers at Nagoya University in Japan have developed a liquid biopsy test for brain cancer screening that, they claim, can identify brain tumors in patients with 100% sensitivity and 97% specificity, regardless of the tumor’s size or malignancy. Pathologists will be interested to learn that the research team developing this technology says it is simple and inexpensive enough to make it feasible for use in mass screening for brain tumors.
Neurologists, anatomic pathologists, and histopathologists know that brain tumors are one of the most challenging cancers to diagnose. This is partly due to the invasive nature of biopsying tissue in the brain. It’s also because—until recently—clinical laboratory tests based on liquid blood or urine biopsies were in the earliest stages of study and research and are still in development.
Thus, a non-invasive urine test with this level of accuracy that achieves clinical status would be a boon for the diagnosis of brain cancer.
Researchers at Japan’s Nagoya University believe they have developed just such a liquid biopsy test. In a recent study, they showed that microRNAs (tiny molecules of nucleic acid) in urine could be a promising biomarker for diagnosing brain tumors. Their novel microRNA-based liquid biopsy correctly identified 100% of patients with brain tumors.
Atsushi Natsume, MD, PhD (above), Associate Professor at Nagoya University, led the research team that created the simple, liquid biomarker urine test for central nervous system tumors that achieved 100% sensitivity and 97% specificity, regardless of the tumor’s size or malignancy. Such a non-invasive clinical laboratory test used clinically would be a boon to brain cancer diagnosis worldwide. (Photo copyright: Nagoya University.)
Well-fitted for Mass Screenings of Brain Cancer Patients
According to the National Cancer Institute (NCI), brain and other central nervous system (CNS) cancers represent 1.3% of all new cancer cases and have a five-year survival rate of only 32.6%.
In their published study, the Nagoya University scientists wrote, “There are no accurate mass screening methods for early detection of central nervous system (CNS) tumors. Recently, liquid biopsy has received a lot of attention for less-invasive cancer screening. Unlike other cancers, CNS tumors require efforts to find biomarkers due to the blood–brain barrier, which restricts molecular exchange between the parenchyma and blood.
“Additionally, because a satisfactory way to collect urinary biomarkers is lacking, urine-based liquid biopsy has not been fully investigated despite the fact that it has some advantages compared to blood or cerebrospinal fluid-based biopsy.
“Here, we have developed a mass-producible and sterilizable nanowire-based device that can extract urinary microRNAs efficiently. … Our findings demonstrate that urinary microRNAs extracted with the nanowire device offer a well-fitted strategy for mass screening of CNS tumors.”
The Nagoya University researchers focused on microRNA in urine as a biomarker for brain tumors because “urine can be collected easily without putting a burden on the human body,” said Atsushi Natsume, MD, PhD, Associate Professor in the Department of Neurosurgery at Nagoya University and a corresponding author of the study, in a news release.
A total of 119 urine and tumor samples were collected from patients admitted to 14 hospitals in Japan with CNS cancers between March 2017 and July 2020. The researchers used 100 urine samples from people without cancer to serve as a control for their test.
To extract the microRNA from the urine and acquire gene expression profiles, the research team designed an assembly-type microfluidic nanowire device using nanowire scaffolds containing 100 million zinc oxide nanowires. According to the scientists, the device can be sterilized and mass-produced, making it suitable for medical use. The instrument can extract a significantly greater variety and quantity of microRNAs from only a milliliter of urine compared to traditional methods, such as ultracentrifugation, the news release explained.
Simple Liquid-biopsy Test Could Save Thousands of Lives Each Year
While further studies and clinical trials will be necessary to affirm the noninvasive test’s accuracy, the Nagoya University researchers believe that, with the inclusion of additional technologies, a urine-based microRNA test could become a reliable biomarker for detecting brain tumors.
“In the future, by a combination of artificial intelligence and telemedicine, people will be able to know the presence of cancer, whereas doctors will be able to know the status of cancer patients just with a small amount of their daily urine,” Natsume said in the news release.
Biomarkers found in urine or blood samples that provide clinical laboratories with a simple, non-invasive procedure for early diagnosis of brain tumors could greatly increase the five-year survival rate for thousands of patients diagnosed with brain cancer each year. Such diagnostic technologies are also appropriate for hospitals and physicians interested in advancing patient-centered care.
