Study is expected to result in new clinical laboratory test biomarkers based on proteins shown to be associated with specific diseases
In January, the UK Biobank announced the launch of the “world’s most comprehensive study” of the human proteome. The study focuses on proteins circulating throughout the human body. Researchers involved in this endeavor hope the project will transform disease detection and lead to clinical laboratory blood tests that help diagnosticians identify illnesses earlier than with conventional diagnostics.
Building on the results of a 2023 pilot project that studied “the effects of common genetic variation on proteins circulating in the blood and how these associations can contribute to disease,” according to a UK Biobank news release, the 2025 UK Biobank Pharma Proteomics Project (UKB-PPP) plans to analyze up to 5,400 proteins in 600,000 samples to explore how an individual’s protein levels changes over time and how those changes may influence the existence of diseases in mid-to-late life.
The specimens being analyzed include 500,000 samples extracted from UK Biobank participants and an additional 100,000 set of second samples taken from volunteers up to 15 years later.
“The data collected in the study will allow scientists around the world to conduct health-related research, exploring how lifestyle, environment, and genetics lead through proteins to some people developing particular diseases, while others do not,” Sir Rory Collins, FMedSci FRS, professor of medicine and epidemiology at University of Oxford and principal investigator and chief executive of the UK Biobank, told The Independent.
“That will allow us to identify who it is, who’s likely to develop disease well before they do, and we can then look at ways in which to prevent those conditions before they develop,” he added.
“It really might be possible to develop simple blood tests that can detect disease much earlier than currently exists,” said Naomi Allen, MSc, DPhil (above), chief scientist for UK Biobank and professor of epidemiology at Oxford Population Health, University of Oxford, in an interview with The Independent. “So, it adds a crucial piece in the jigsaw puzzle for scientists to figure out how disease develops and gives us firm clues on what we can do to prevent and treat it.” Clinical laboratories may soon have new test biomarkers that help identify proteins associated with specific diseases. (Photo copyright: UK Biobank.)
Developing New Protein-based Biomarkers
A proteome is the entire set of proteins expressed by an organism, cell, or tissue and the study of the proteome is known as proteomics. The proteome is an expression of an organism’s genome, but it can change over time between cell types and growth conditions.
The human genome contains approximately 20,000 genes and human cells have between 80,000 and 400,000 proteins with specific cells having their own proteomes. Proteomics can help ascertain how proteins function and interact with each other and assist in the identification of biomarkers for new drug discoveries and development.
“This is hugely valuable, because it will enable researchers to see how changes in protein levels within individuals over mid- to late-life influence the development of a whole range of different diseases,” said Naomi Allen, MSc, DPhil, chief scientist for UK Biobank and professor of epidemiology at the Oxford Population Health, University of Oxford, in The Independent. “It will accelerate research into the causes of disease and the development of new treatments that target specific proteins associated with those diseases.
“The pilot data is already showing that specific proteins are elevated in those who go on to develop many different types of cancers up to seven years before a clinical diagnosis is made. And for dementia, up to 10 years before clinical diagnosis is made,” she added.
According to the project’s website, the UK Biobank’s proteomics dataset will allow researchers to:
Examine proteomic and genetic data from half a million people to provide a more detailed picture of the biological processes involved in disease progression.
Examine how and why protein levels change over time to understand age-related changes in healthy individuals.
Utilize proteomic data together with imaging data to understand disease mechanisms.
“Data from the pilot study has shown that specific proteins are substantially elevated in individuals with autoimmune conditions like multiple sclerosis and Crohn’s disease and so on,” Allen noted. “So, you can see how a simple blood test could be used to complement existing diagnostic measures in order to diagnose these types of diseases more accurately and perhaps more quickly.”
An Invaluable Resource of Knowledge
The initial UK Biobank started in 2006 and, to date, has collected biological and medical data from more than half a million individuals. The subjects of the UKB-PPP study are between the ages of 40 and 69 and reside in the UK. The database is globally accessible to approved researchers and scientists engaging in research into various diseases.
The full dataset of the latest research is expected to be added to the UK Biobank Research Analysis Platform by the year 2027. The newest study is backed by a consortium of 14 pharmaceutical firms.
Allen also noted that evidence from the research has emphasized how some drugs may be useful in treating a variety of conditions.
“Some proteins that are known to be important for immunity are related to developing a range of psychiatric conditions like schizophrenia, depression, bipolar disorder and so on,” she told The Independent. “And given there are drugs already available that specifically target some of these proteins that are used for other conditions, it presents a real opportunity for repurposing those existing drugs for these neuropsychiatric conditions.”
This type of comprehensive study of the human proteome may have a great impact on patient diagnosis and treatment once the study is completed and the results are disclosed.
“The data will be invaluable. The value of the data is infinite,” Collins told The Independence.
Since it is clinical laboratories that will be engaged in testing for proteins that have become associated with specific diseases, this new UK Biobank study has the potential to expand knowledge about useful protein markers for both diagnosis and therapeutic solutions (prescription drugs).
Study is first solid evidence that introduction of HPV vaccines may be a factor in the reduction in rates of cervical cancer among those who were vaccinated nearly 20 years ago
This success story confirms that a better understanding of what causes cervical cancer—when combined with the development of clinical laboratory tests that detect the HPV virus—were key developments in the fight against this deadly disease.
The study, led by cancer population scientist Ashish Deshmukh, PhD, epidemiologist, professor of public health sciences and co-leader of the cancer control program at the Hollings Cancer Center (HCC) at MUSC, found the connection between the decline in cervical cancer rates and the adoption of the HPV vaccine.
Pathologists and clinical laboratory managers will want to monitor the worldwide effort to eradicate cervical cancer, as many countries focus their efforts on HPV vaccine compliance. The scientists published their findings in the Journal of the American Medical Association (JAMA) titled, “Cervical Cancer Mortality among US Women Younger than 25 Years, 1992-2021.”
“We had a hypothesis that since it’s been almost 16 years, that maybe we might be starting to see [the] initial impact of HPV vaccination on cervical cancer deaths, and that’s exactly what we observed,” Ashish Deshmukh PhD (above), epidemiologist and professor of public health sciences at Medical University of South Carolina in Charleston, told Science News. The MUSC study provides important findings for clinical laboratories and anatomic pathologists providing vaccinations against Human Papillomavirus. (Photo copyright: Medical University of South Carolina.)
MUSC Study Details
Deshmukh’s team examined cervical cancer mortality rates of women younger than 25 from 1992-2021. The team divided data into 3-year periods, noting a “gradual decline in cervical cancer deaths of almost 4%” which brought deaths to .02 per 100,000 people from 2013-2015, Science News reported, adding that the researchers speculated that the “steady drop might be due to improved prior prevention and screening methods for cervical cancer.”
The death rate for cervical cancer continued to trend downward with “a dramatic reduction in mortality over just 60%,” arriving at .007 deaths per 100,000 according to the 2019-2021 data, Science News continued.
In their JAMA article, the MUSC researchers noted a continued positive shift toward lower cervical cancer rates beyond 2021, with a 12% per year decline and 65% reduction overall.
“They’re seeing this precipitous drop in mortality at the time that we would be expecting to see it due to vaccination,” Emily Burger, PhD, professor at the University of Oslo and research scientist at Harvard T.H. Chan School of Public Health told Science News. “Ultimately, we hope we are preventing mortality and death [with the introduction of vaccines], and this study is really supporting that conclusion.”
Nonetheless, a definitive connection to the HPV vaccine was not possible to determine “because it’s unclear whether the women in the study cohort were, in fact, vaccinated,” Science News reported.
Development of the PAP Smear
Cervical cancer was first discovered in 1886. At that time pathologists relied on “examination of tissue biopsies derived from an observable lesion,” LabTAG noted. It was George Papanicolaou, PhD—considered to be the father of cytology—who determined in 1943 that more could be observed via a surface biopsy under a microscope. The Pap Smear was born.
The Pap Smear, for which wider screening began in the US in the late 1950s and 1960s, began to reduce deaths from cervical cancer by the 1990s. But women who did not get an annual pap were the ones generally to be diagnosed with advanced cervical cancer.
By the 1990s, pap smear testing was a major business for clinical laboratories and pathology groups. Fifty-five million pap tests were done annually in the 1990s.
In 2004, clinical laboratories began HPV testing. Then came the HPV vaccine. Introduced in 2006, HPV vaccine programs focused on 12-15 year-old girls with hopes of preventing cervical cancer.
Clinical laboratories in the US today perform many fewer Pap smear tests.
While efforts overseas appear to focus on HPV vaccine requirements, the US has been hesitant to do the same. The District of Columbia, Hawaii, Virginia, and Rhode Island are the only states to require it by grade seven, Immunize.org notes. Various reasons have kept it from being required in the US, including fear that it might encourage sexual activity in teens.
There is hope that, with a larger focus on cervical cancer, more deaths can be prevented since the cancer itself is slow growing. “When we look at HPV vaccination coverage in the US, we haven’t reached our goal. We have to do better in terms of improving vaccination rates,” Deshmukh told Science News.
As scientists continue to gain a better understanding of causes and prevention of cervical cancer, new clinical laboratory tests may be developed to detect HPV. Thus, lab managers will want to stay in touch with current research as it will surely impact the testing performed by labs in the future.
Endemic in the Amazon region, recent spread of the disease caused the CDC to issue recommendations to travelers who develop symptoms after visiting certain countries
Anatomic pathologists, microbiologists, and clinical laboratories active in infectious disease testing will want to stay informed about the worldwide progression of the Oropouche virus. The infectious pathogen is spreading beyond the Amazon region (where it is endemic) into more populated areas—including the US—and possibly being transmitted in novel ways … including through sexual activity.
The virus primarily spreads to people through biting small flies called midges (a.k.a., no-see-ums), according to a CDC Health Alert Network (HAN) Health Advisory, which added that mosquitoes can also spread the disease.
Oropouche infections, the CDC said, are occurring in Brazil, Bolivia, Peru, Columbia, and Cuba. Cases identified in the US and Europe seem to be among travelers returning from those countries. Reported cases also include deaths in Brazil and cases of mother-to-child (vertical) transmission.
There is “an increase in Oropouche virus disease in the Americas region, originating from endemic areas in the Amazon basin and new areas in South America and the Caribbean,” CDC noted in its Health Advisory.
Though de Oliveira notes that a global outbreak is not yet expected, researchers are nevertheless raising the alarm.
“The challenge is that this is such a new disease that most clinicians—including infectious disease specialists—are not aware of it and we need to make more patients and healthcare providers aware of the disease and increase access to diagnostics so we can test for it,” said David Hamer, MD (above), infectious disease specialist and professor, global health, at Boston University School of Public Health, in an NPR article. “Over the next year, we are going to learn a lot more.” Pathologist, microbiologists, and clinical laboratories will want to keep an eye on the spread of the Oropouche virus. (Photo copyright: Boston University.)
Risks to Pregnant Women, Seniors
Research published in The Lancet Infectious Diseases estimates up to five million people in the Americas are at risk of exposure to the Oropouche virus. The authors also pointed out that cases in Brazil swelled from 261 between the years 2015 to 2022 to 7,497 by August 2024.
About 60% of people infected with Oropouche have symptoms such as fever, chills, headache, muscle aches, and joint pains, according to the CDC Health Advisory, which added that the symptoms generally appear three to 10 days after exposure.
Those with the highest risk of complications from the disease, according to the CDC, include pregnant women, those over age 65, and people with medical conditions such as:
“The geographic range expansion, in conjunction with the identification of vertical transmission and reports of deaths, has raised concerns about the broader threat this virus represents in the Americas,” an additional paper in Emerging Infectious Diseases noted.
“Healthcare providers should be aware of the risk of vertical transmission and possible adverse impacts on the fetus including fetal death or congenital abnormalities,” CDC said in an Oropouche Clinical Overview statement.
“There have been a few cases of maternal to fetal transmission, and there are four cases of congenital Oropouche infections that have been described—all of which led to microcephaly, which is a small head size,” David Hamer, MD, infectious disease specialist and professor global health, Boston University School of Public Health, told NPR.
Diagnostic Testing at Public Labs
Clinical laboratories and physicians should coordinate with state or local health departments for Oropouche virus testing and reporting.
People should consider Oropouche virus testing if they have traveled to an area with documented or suspected cases, have symptoms including fever and headache, and have tested negative for other diseases, especially dengue, according to CDC.
Taking Precautions after Sex
“This [possibility of sexual transmission] brought up more questions than answers,” Hamer told NPR, adding, “we know now is that sexual transmission could happen.”
Though no documented cases of sexual transmission have been recorded, the CDC nevertheless published updated interim guidance, “recommending that male travelers who develop Oropouche symptoms after visiting areas with Level 1 or 2 Travel Health notices for Oropouche to ‘consider using condoms or not having sex for at least 6 weeks’ from the start of their symptoms,” NPR reported.
“Because stillbirths, birth defects, and severe complications and deaths in adults have been reported, CDC is providing interim recommendations on preventing possible sexual transmission based on what we know now,” the CDC stated.
Clinical laboratory leaders working with infectious disease colleagues can help educate physicians and the community about the Oropouche virus and the need to prevent bites from midges and mosquitoes by using, for example, Environmental Protection Agency (EPA) registered insect repellant.
Diagnostics professionals will want to stay abreast of developing Oropouche cases as well as changes to or expansion of clinical laboratory testing and reported guidance.
Innovative in-office test, when integrated with UTI microbiology testing performed by clinical laboratories, could contribute to better patient outcomes
Treatments for certain bacterial infections are becoming less effective due to antimicrobial resistance (AMR). Now, after a 10-year-long worldwide competition, the first multi-million euro prize for an accurate, rapid, and cost effective clinical laboratory test for diagnosing and treating urinary tract infections (UTIs) went to Sysmex Corporation’s subsidiary Astrego. This milestone event could benefit tens of millions of people who suffer from UTIs annually.
Astrego, of Uppsala, Sweden, won the €8 million (US$8.19 million) Longitude Prize on AMR for its PA-100 AST System. The new diagnostic technology will “transform treatment of urinary tract infections and brings the power of clinical laboratory testing into a doctor’s office,” according to a news release from Challenges Works, the United Kingdom-based organization that organized and awarded the prize.
The Astrego system is, according to Challenge Works’ website, a “game-changing solution” in “a novel point-of-care diagnostic test that rapidly and accurately identifies the presence of a bacterial infection and the right antibiotic to prescribe.”
“We launched the Longitude Prize on AMR (in 2014) to create the urgent ‘pull’ needed to get innovators working on one of the biggest life-and-death challenges facing humanity. Hundreds of teams [that] competed with multiple solutions [are] now close to market thanks to the prize,” said Tris Dyson, Managing Director, Challenge Works, in a news release.
The new diagnostic technology “could herald a ‘sea change’ in antibiotic use” according to the judges of the competition, The Guardian reported.
“The PA-100 AST System (above) creates a future where patients can quickly and accurately get a diagnosis and the correct treatment when they visit the doctor,” said Sherry Taylor, MD, UK National Health Service, Temple Fortune Medical Group, London, in the Challenge Works news release. “Accurate, rapid diagnosis of bacterial infections that help doctors and health workers to manage and target antibiotics, will slow the development and spread of antibiotic resistant infections, improve healthcare and save potentially millions of lives,” she added. In-office point-of-care systems like the PA-100 may reduce the number of doctor orders for UTI tests to clinical laboratories while contributing to better patient outcomes. (Photo copyright: Sysmex.)
How the Test Works
In the UK, people are treated for UTIs more than any other infection. It takes about three days for doctors to receive the results from traditional microbiology testing. They then prescribe an antibiotic to treat the infection. But about half of “infection-causing bacteria are resistant to at least one antibiotic,” according to a news release from the Geneva, Switzerland-based NESTA Foundation which funded the Longitude Prize on AMR.
“It’s impossible to overstate how critical it is to address AMR [antimicrobial resistance]. By 2050, it is predicted to cause 10 million deaths a year—matching those caused by cancer—and cost $1 trillion in additional health costs,” the news release states.
UTI are more common in women and the reason for eight million healthcare appointments annually in the US, according to Medscape.
The PA-100 AST system makes it possible for patients to provide a small urine sample during their appointments with doctors, find out if they have a bacterial infection in 15 minutes, and receive the “right antibiotic to treat it within 45 minutes,” NESTA said. Sysmex describes the PA-100 AST as an “automated phenotypic analyzer, based on EUCAST standards,” that combines “phase-contrast microscopy and nanofluidics to make available antibiograms at point of care.” It enables healthcare providers to perform antimicrobial susceptibility testing (AST) in-office rather than sending out urine samples to microbiology laboratories.
The systems works as follows, according to the Sysmex website:
As a urine sample passes through the chip, “single bacterial cells are trapped in individual channels.”
Meanwhile, “larger cellular components” are filtered and kept out of the nanofluidic chip.
Contrast-phase microscopy enables real-time monitoring of cell growth. “Resistant bacteria keep a higher growth rate during incubation, while susceptible ones grow slowly or lyse.”
Expert computer software identifies that bacterial strain, delivers an “easy to interpret antibiogram after assay completion” and provides an “informed prescription decision” on which antibiotic is expected to fight the infection.
“The PA-100 AST System challenges bacteria present in a patient’s urine with microscopic quantities of antibiotics in tiny channels embedded in a cartridge the size of a smartphone,” said Mikael Olsson, CEO and co-founder of Sysmex Astrego, in The Microbiologist.
“We rapidly pinpoint whether a bacterial infection is present and identify which antibiotic will actually kill the bugs, guiding doctors only to prescribe antibiotics that will be effective,” he added.
Sysmex is conducting more studies in the UK and working with regulators in Europe for clearances, according to Olsson.
Older Antibiotics May Make Comeback
It’s possible that use of the PA-100 system to identify the best antibiotic to treat infections could lead to a resurgence in the use of previously retired antibiotics.
“Roughly 25-30% of patients have infections resistant to older first-line antibiotics which have been retired as a result; this means the remaining 70-75% of patients could still benefit from those older drugs,” Pathology in Practice reported, adding, “Since the PA-100 AST System identifies which specific antibiotic can treat an infection, it will likely allow retired antibiotics to be brought back into service because the test is able to demonstrate when an infection is susceptible to their effects.”
Many people could benefit from the older antibiotics, Challenge Works noted.
Revolutionizing Healthcare
The Sysmex Astrego’s PA-100 AST System is a significant development.
“Currently, I send the urine sample off for analysis, and it usually takes around three days to come back with results,” said Sherry Taylor, MD, UK National Health Service, Temple Fortune Medical Group, London, in the Challenge Works news release. “Having a bedside test that would enable rapid diagnosis through antibiotic susceptibility testing would revolutionize general practice and patient care. It’s all about using antibiotics only when necessary and appropriate.”
Each individual test costs about €25 (US$25.72), The Guardian reported, adding that ramped up production may lower the price.
The PA-100 AST System is the latest example of a diagnostic/therapeutic solution developed in Europe rather than the US, which is often slower to award regulatory clearance.
It also is another test that will be performed outside of traditional clinical laboratory settings, demonstrating the trend to move medical laboratory tests closer to patients.
Findings could lead to new clinical laboratory tests to screen for individuals with increased risk of blood transfusion complications
Pathologists and clinical laboratory scientists who understand the complexities of blood typing from one human to another will be interested to learn that a 50 year-old mystery has brought about an exciting new discovery—a new human blood group.
British and Israeli scientists led by the UK’s NHS Blood and Transplant (NHSBT) and the University of Bristol discovered the meaning behind a missing protein molecule found in a pregnant woman five decades ago. This anomaly has now been given its own blood group identification called MAL, according to a University of Bristol new release.
“Some people can lack this blood group due to the effect of illness, but the rare inherited form of the AnWj-negative phenotype has only been found in a handful of individuals—though due to this discovery it will now be easier to find others in the future,” the news release notes.
This is important because receiving mismatched blood can be fatal.
“AnWj is a high-prevalence red blood cell (RBC) antigen in the ISBT 901 series. Only nine reports of anti-AnWj have been published since it was first documented in 1972,” according to a 2012 article published by the American Association of Blood Banks, now known as the Association for the Advancement of Blood and Biotherapies (AABB).
For even the small proportion of the population with this new blood group, diagnosing its presence can have a major impact while preventing unwanted harm.
“The work was difficult because the genetic cases are very rare. We would not have achieved this without exome sequencing, as the gene we identified wasn’t an obvious candidate and little is known about Mal protein in red cells,” said Louise Tilley, PhD, Senior Research Scientist, IBGRL Red Cell Reference at NHS Blood and Transplant, in the news release.
“The genetic background of AnWj has been a mystery for more than 50 years, and one which I personally have been trying to resolve for almost 20 years of my career,” said Louise Tilley, PhD (above), Senior Research Scientist, IBGRL Red Cell Reference at NHS Blood and Transplant, in the news release. “It represents a huge achievement, and the culmination of a long term effort, to finally establish this new blood group system and be able to offer the best care to rare, but important, patients,” she added. Clinical laboratory scientists involved in blood banking will want to keep updated as further research into this new blood group is published. (Photo copyright: NHS Blood and Transplant.)
Unraveling the Mystery
In 1972, scientists were stumped by a pregnant woman with a blood sample that was “mysteriously missing a surface molecule found on all other known red blood cells at the time,” Science Alert reported. The AnWj antigen that was missing in that patient’s blood is present in 99.9% of human blood samples.
“Researchers found that the AnWj antigen is carried on the Mal protein. While illness can cause some people to lose the AnWj antigen, inherited cases of the AnWj-negative phenotype are extremely rare. Using whole exome sequencing on five genetically AnWj-negative individuals, researchers confirmed that, in these cases, the participants lacked the antigen due to homozygous deletions in the MAL gene,” an AABB news release stated.
The researchers named the group with the missing antigen the MAL blood group (short for Myelin and Lymphocyte Protein) which is where the antigen resides.
Genetic sequencing enabled the scientists to locate the gene when they “inserted the normal MAL gene into blood cells that were AnWj-negative. This effectively delivered the AnWj antigen to those cells,” Science Alert noted.
Mutated MAL genes result in the AnWj-negative blood type. The team discovered three patients with the blood type and no mutation, “Suggesting that sometimes blood disorders can also cause the antigen to be suppressed,” Science Alert added. The researchers also discovered that AnWj isn’t present in newborns but arrives sometime after they are born.
“Interestingly, all the AnWj-negative patients included in the study shared the same mutation. However, no other cell abnormalities or diseases were found to be associated with this mutation,” Science Alert said.
The discovery that “the Mal protein is responsible for binding AnWj antibodies” could lead to new clinical laboratory tests to screen for patients at risk from blood transfusions, AABB noted in its news release.
Facing the Challenge
Scientists had to overcome many challenges to uncover the details of this blood type. The complexity of the protein further hindered their efforts.
“MAL is a very small protein with some interesting properties which made it difficult to identify, and this meant we needed to pursue multiple lines of investigation to accumulate the proof we needed to establish this blood group system,” said Tim Satchwell, PhD, senior lecturer and cell biologist at the University of the West of England, in the University of Bristol news release.
“Resolving the genetic basis for AnWj has been one of our most challenging projects,” Nicole Thornton, head of IBGRL Red Cell Reference at NHSBT told the AABB. “There is so much work that goes into proving that a gene does actually encode a blood group antigen, but it is what we are passionate about, making these discoveries for the benefit of rare patients around the world.”
It’s hard to pinpoint how many individuals will benefit by testing for the blood group, Tilley told the BBC. Nevertheless, “the NHSBT is the last resort for about 400 patients across the world each year,” the BBC reported.
While more research needs to be done, the initial discovery is promising and may lead to new clinical laboratory tests to identify individuals who could be severely harmed should they receive the wrong blood type during a transfusion.
Microbiologists and clinical laboratory professionals should play a key role in the ordering and use of microbiome testing
International experts in the field of microbiome testing recently published a consensus document that establishes guidelines for the use and distribution of microbiota diagnostics they claim are long overdue. Companies offering direct-to-consumer (DTC) microbiome test kits continue to increase in number and popularity. But some experts in the human microbiome field—including microbiologists and clinical laboratory professionals—remain apprehensive regarding the science behind this type of home testing.
A Gemelli University news release states, “The intestinal microbiota could perhaps one day become a routine tool for the early diagnosis of many diseases and treatment guidance, but at the moment there is a lack of solid scientific evidence to support these indications. Yet, day by day, the offers of commercial kits are multiplying to carry out do-it-yourself tests, at the moment completely devoid of scientific significance and solidity.”
It continues, “To put a stop to this drift, a panel of international experts, coordinated by Dr. Gianluca Ianiro, has drafted the ‘instructions for use’ for best practices related to microbiota testing and recommendations for its indications, analysis methods, presentation of results and potential clinical applications.”
“This document marks a decisive step towards a standardization that has become indispensable making the microbiota an increasingly integrated element in personalized medicine,” said gastroenterologist Antonio Gasbarrini, MD (above), dean of the faculty of medicine and surgery and full professor of internal medicine at Catholic University of the Sacred Heart. “In the clinical context, these guidelines will be essential to translate research progress into concrete applications, improving the management of many gastroenterological and systemic diseases related to the microbiota,” he added. Microbiologists and clinical laboratory managers may want to follow efforts to promote these guidelines, both within healthcare and as they relate to consumers ordering their own microbiome tests. (Photo copyright: Agostino Gemelli University.)
Our Second Brain
The gut microbiome consists of the microorganisms that reside in the human gut and the small and large intestines. This ecosystem plays a major role in an individual’s health as it aids in digestion and metabolism. It also helps control inflammation and can strengthen the immune system.
“[The gut microbiome] contains all the microbes that reside within our intestinal tract. And those microbes are comprised of bacteria, fungi, yeast and viruses,” said Gail Cresci, PhD, RD, Director, Nutrition Research Center for Human Nutrition at the Cleveland Clinic in a Health Essentials article.
“What we’ve learned over the years is that there’s a lot of crosstalk between your gut microbiome and your body,” she added.
A healthy gut microbiome is imperative for good human health. An unhealthy gut microbiome can lead to certain diseases and even have a negative effect on mental health and mood.
“Your gut health is so important because studies really do indicate that our gut health plays a huge role in our overall health,” stated Kristin Kirkpatrick, MS, RDN, a dietician at the Cleveland Clinic Department of Wellness and Preventative Medicine, in the article. “It impacts our risk of chronic conditions, our ability to manage our weight, even our immune system. … There is so much attention and research on the microbiome and gut health now that experts often refer to it as the ‘second brain.’”
Future of Microbiome Testing
In their consensus document, the scientists wrote, “We convened an international multidisciplinary expert panel to standardize best practices of microbiome testing for clinical implementation, including recommendations on general principles and minimum requirements for their provision, indications, pre-testing protocols, method of analyses, reporting of results, and potential clinical value. We also evaluated current knowledge gaps and future directions in this field.”
The team’s intent is to provide guidelines and define quality standards and accuracy for microbiome testing to ensure consumers are receiving factual information.
“In recent years, the intestinal microbiota has taken on a key role as a diagnostic, prognostic and therapeutic tool,” said gastroenterology surgeon Serena Porcari, MD, of Gemelli University Hospital in Italy, in the Gemelli news release. “From this point of view, the first step, for a targeted modulation of the microbiota itself, is to obtain a standardization of its analysis, regulated according to the definition of minimum criteria for performing the test.”
The team also evaluated disparities between various tests and anticipated what lies ahead for the future of microbiome testing. In addition, they assessed ways to minimize inappropriate testing and established a framework for the development of evidence-based testing and the use of human microbiota diagnostics in clinical medicine.
“This consensus document represents a crucial step towards bringing order to the current panorama of diagnostic tests on the intestinal microbiota,” said Maurizio Sanguinetti, MD, director of the department of laboratory and hematological sciences at Gemelli Polyclinic Foundation, in the news release. “The diagnostic characterization of the intestinal microbiota must be based on rigorous standards, in order to guarantee reliable and clinically useful results. It is not a simple laboratory test, but a complex tool that requires a deep understanding of microbial dynamics and their impact on human health.
“This is why these analyses must be conducted by highly qualified personnel with specific expertise in clinical microbiology and bioinformatics,” he emphasized. “In our microbiology laboratory at the Fondazione Policlinico Gemelli, we already apply diagnostic tests on the intestinal microbiota following the principles and best practices outlined in the document.
“It is essential to invest in the training of future physicians and microbiologists so that they acquire the necessary skills to correctly interpret the results of these tests and apply them effectively in clinical practice. This document provides a valuable basis to guide not only the current use of the tests, but also their future development, always with a view to evidence-based and personalized medicine,” Sanguinetti concluded.
With popularity of microbiome testing on the rise, it’s important that microbiologists and clinical laboratory professionals stay informed on the latest developments in the field of microbiome diagnostics to protect healthcare consumers and their patients.
