Medical researchers say major breakthroughs in blood test technology will appear on the market within a few years, using the immune system’s response and genetic analysis to quickly and cost-effectively identify the disease.
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One morning last May, Taya Fernandez Shannon̵
She was given antibiotics when a bacterial infection was suspected, but her condition only got worse and her fever jumped. For her parents, for all parents, it was the best medical nightmare; doctors in the dark for days about the cause of their daughter’s illness.
Eventually, after further blood tests, the doctors decided that Tayah was suffering from an unusual inflammatory syndrome that pediatric infectious disease specialists had just begun to see, but suspected that there were links to Sars-COV-2.
Young patients in the United Kingdom and the United States arrived in intensive care units with symptoms similar to another medical-recognized disease called Kawasaki. But they had no guarantee that the same course of treatment – injecting a solution of donor antibodies into the blood – would be successful.
In Tayah’s case, the antibody solution, known as immunoglobulin, works to relieve her parents. But at the same time last May, a team of researchers from Imperial College London confirmed through sophisticated analyzes of blood samples taken from patients like Tayah that it was indeed a new disease other than Kawasaki.
Hunting in the immune system response to bacteria, viruses
A related breakthrough in this same lab, focused specifically on how individual genes behave, could have seismic implications for a multibillion-dollar diagnostic sector that has received unprecedented attention from patients, regulators and the business world during this pandemic.
A new method for identifying a specific disease from blood samples relies on the correlation between activity in a small set of genes that represents the immune response and specific pathogens causing a specific disease – just as poliovirus causes polio, coronavirus (SARS) -COV-2, a pathogen ) causes Covid-19. Scientists believe that by studying a small number of genes, they can quickly identify which pathogen is in a patient’s system, what disease they have, and how best to treat them.
Companies from small research university departments to industry giants such as Abbott Laboratories and Danaher’s Cepheid are working to build two decades of research into how our own immune systems respond naturally to foreign substances in our bodies, including pathogens such as bacteria or viruses. Modern technology such as Cepheid’s GeneXpert technology is able to distinguish between different RNAs of different viruses, such as SARS-COV-2, or a specific influenza strain, but experts say it is becoming increasingly clear that our body’s immune system can to be faster, more accurate detection systems.
Historically, physicians had to rely on the patient’s medical history and symptoms to narrow the cause of the disease and develop a treatment plan. More recently, laboratory inspections at the molecular level, such as Cepheid technology, have allowed clinicians to identify specific pathogens in nasal mucus, throat swabs, or blood samples that may have caused the disease. But hunting bacteria or viruses in this way can be time consuming, expensive, and sometimes simply ineffective. The specific RNA signature of a virus can be difficult to detect.
Abbott and Cepheid did not respond to requests for comment.
The team from Imperial College, London, working separately but simultaneously with several colleagues around the world, is now convinced that future diagnoses can soon be made with the help of mass tests, which will take only a few minutes.
These tests will not give explicit screening for a specific pathogen, but instead allow scientists and healthcare professionals to simply observe how specific genes behave in the body as an indication of how the immune system is already responding to a pathogen that may not be easy otherwise. case detectable.
Imperial College professor Mike Levin is currently conducting an ongoing European Union-funded study focusing on this potential, called Diamonds. In recent years, he and other scientists have shown how the observed activity in a small number of our genes can work as a kind of shorthand for our body’s immune response to a pathogen. If it is seen that a handful of specific genes out of thousands in a blood sample are activated – or, conversely, inhibited – it may mean that a person is preparing to fight a specific pathogen.
Levin and colleagues already have evidence of the concept of this diagnostic approach after studies involving thousands of patients with tuberculosis fever and hundreds of Kawasaki patients. And the work of the Imperial College team with the Diamonds study is beginning to bear fruit and could help identify individual immunological markers of diseases such as coronavirus-related multisystem inflammatory syndrome in children such as Tayah Fernandes, now known as MIS-C.
When Covid-19 appeared in many places, with MIS-C after it, it gave Levin and his researchers an unprecedented opportunity to test this technique on an entirely new disease.
In the future, these tests – relying on huge amounts of data and machine learning – should be able to produce multi-class, not just binary, results. This means that they could not only confirm whether a pathogen is bacterial or viral or whether someone has a specific disease or not, but they could distinguish which of the many diseases affects the patient.
In short, Levin expects that by studying the behavior of a relatively small number of genes, clinicians will be able to distribute patients to all major disease classes within an hour.
“We think it’s a completely revolutionary way to do medical diagnostics,” Levin said. He expects the study to provide the basis for a new technology, but has no financial interest in a business related to it.
Instead of what he calls a “step-by-step process” of first eliminating bacterial infections, treating the most common conditions, and then doing more research, “this idea is the first blood test that can tell you if a patient has an infection. or no infection and what group of infection it is, to the individual pathogens. “
First Hatry, an associate professor at the Stanford Institute for Immunity, Transplantation and Infection and the Department of Medicine, says our immune system has evolved over millennia to fight pathogens and may therefore be more effective and efficient at studying our bodies’ responses. .
“Until now, we didn’t have the technology to measure a set of genes in a fast way,” he said. “But there have been enough technologies available in the last few years that now allow us to measure several genes by a fast multiplex method of care analysis.”
Although neither the FDA nor any European regulatory bodies have approved these types of gene-based pathogen detection systems, Khatri, which is helping to launch a related trading company, says they will come soon. “In the next year or two, there will be several that will be available on the market.”