Medical researchers say that within a few years there will be major breakthroughs in blood testing technology that uses immune system response and genetic analysis to identify disease quickly and cheaply.
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One morning in May last year, Tayah Fernandes’ mother, Shannon, found that her four-year-old daughter was seriously ill and took her to the nearest emergency room in Manchester, England. The coronavirus had crashed on Britain’s coasts weeks earlier, and emergency doctors were initially unsure how best to treat Tayah’s constellation of symptoms, which included abdominal pain and a bright red rash.
They gave her antibiotics for a suspected bacterial infection, but her condition only worsened, her fever rose. For her parents, for all parents, this was the ultimate medical nightmare; For days, doctors grope in the dark about the cause of their daughter’s illness.
Eventually, after further blood tests, doctors decided that Tayah had an unusual inflammatory syndrome that pediatric infectious disease specialists had just discovered, but which were believed to have links to Sars-COV-2.
Young patients across the UK and US arrived in intensive care units with symptoms similar to another disease that doctors have already recognized called Kawasaki. But they had no guarantee that the same treatment – injecting a solution of donor antibodies into the bloodstream – would prove successful.
In Tayah’s case, the antibody solution known as immunoglobulin worked to provide relief to her parents. But around the same time last May, a team of researchers at Imperial College London, through complex analyzes of blood samples from patients like Tayah, confirmed that it was indeed a new disease, different from Kawasaki.
A related breakthrough in the same lab, specifically focused on individual gene behavior, could have seismic ramifications on a billion dollar diagnostics sector that has received unprecedented attention from patients, regulators, and the business community over the course of this pandemic.
A new way of identifying a particular disease from blood samples relies on the correlation between the activity of a small group of genes that make up the immune response and certain pathogens that cause a particular disease – just like the poliovirus causing polio, the coronavirus (SARS. ). -COV-2, a pathogen) causes Covid-19. Scientists believe that by examining a small number of genes, they can quickly identify what pathogen is in a patient’s system, what disease they have, and how best to treat them.
Companies from small spin-offs from research universities to industry giants such as Abbott Laboratories and Danaher‘s Cepheid want to build on two decades of research on the natural reaction of our own immune system to foreign substances in our body, including pathogens such as bacteria and viruses. A current technology like Cepheid’s GeneXpert technology is able to differentiate between the different RNA of different viruses like SARS-COV-2 or a certain strain of influenza, but experts are saying more and more clearly that our body’s immune system can be faster , more accurate detection systems.
In the past, doctors had to rely on a patient’s medical history and symptoms to narrow down the cause of a disease and develop a treatment plan. More recently, molecular-level laboratory studies like Cepheid technology have enabled clinicians to identify certain pathogens in nasal mucus, throat swabs, or blood samples that could have caused a disease. But searching for bacteria or viruses this way can be time-consuming, costly, and sometimes simply ineffective. The specific RNA signature of a virus can be difficult to identify.
Abbott and Cepheid did not respond to requests for comment.
The team at Imperial College, London, which works separately but simultaneously with several colleagues around the world, is now convinced that future diagnoses can soon be carried out with table tests that will only take a few minutes.
These tests would not look explicitly for a specific pathogen, but rather allow scientists and medical professionals to simply observe how certain genes behave in the body, as an indication of how an immune system is already reacting to a pathogen that may otherwise not be easily recognized is more detectable.
Imperial College Professor Mike Levin is currently leading an ongoing European Union funded study entitled “Diamonds” that focuses on this potential. In recent years he and other scientists have shown how the observed activity in a few of our genes can function as a kind of shortcut for our body’s immune response to a pathogen. When a handful of certain genes out of the thousands in a blood sample are activated – or, on the contrary, inhibited – it can indicate that a person is preparing to fight off a particular pathogen.
Levin and colleagues already have a proof of concept for this diagnostic approach after studying thousands of patients with tuberculosis fever and hundreds of Kawasaki patients. And his Imperial College team’s work on the Diamonds study is starting to bear fruit and could help identify the diverse immunological markers of diseases such as coronavirus-related multisystem inflammatory syndrome in children like Tayah Fernandes, now commonly known as MIS -C. To identify.
When Covid-19 surfaced in multiple locations, with MIS-C in its wake, it provided Levin and his researchers with an unprecedented opportunity to test this technique on an entirely new disease.
In the future, these tests – by relying on huge amounts of data and machine learning – should be able to produce multi-class, rather than just binary, results. This not only enables them to determine whether a pathogen is bacterial or viral, or whether or not someone has a certain disease, but also to distinguish which of a variety of diseases affects their patients.
In short, Levin expects that by studying the behavior of a relatively small number of genes, clinicians will be able to assign patients to all major disease classes within an hour.
“We think this is a completely revolutionary way of medical diagnosis,” said Levin. He expects research to provide the basis for new technologies, but has no financial interest in any related business.
Rather than what he calls the “step-by-step process” of first clearing bacterial infections, treating the most common conditions, and then doing further research, “this idea is the very first blood test that can tell you whether the patient has an infection or not “. an infection, and which infection group it is, down to the individual pathogens. “
Purvesh Khatri, Associate Professor at the Stanford Institute for Immunity, Transplantation and Infection and Department of Medicine, says that our immune systems have been evolving for millennia to fight pathogens, and therefore, it could prove to be more effective and efficient in the response of our bodies .
“We didn’t have a technology that could measure a number of genes quickly at the point of care,” he said. “But there has been enough technology in the last few years that we can now measure some genes in a rapid multiplex point-of-care assay.”
Although neither the FDA nor any European regulator has approved these types of gene-based pathogen detection systems, Khatri, who is helping set up a related commercial company, says they are coming soon. “There will be more than one coming out in the next year or two.”