A genetic signature in newborns can predict neonatal sepsis even before symptoms begin to appear, according to a new study.
The study, led by UBC and SFU researchers in collaboration with the Gambia Medical Research Council (MRC) Unit, has the potential to help health workers diagnose babies earlier, even in countries low- and middle-income countries (LMIC) where neonatal sepsis is common. of special concern. the investigation, published today in eBiomedicine, is funded by the National Institutes of Health and the Canadian Institutes of Health Research.
“Neonatal sepsis is caused by the body’s irregular response to a serious infection that occurs within the first 28 days of life. Globally, it affects around 1.3 million babies annually and, unfortunately, in developing countries low- and middle-income, those rates are higher,” said first author Andy An, a UBC MD/PhD student who completed the research as a PhD student in the department of microbiology and immunology. “Even when treatment is successful, sepsis can have lifelong effects because it can cause delayed development in children, imposing cognitive deficits and long-term health problems. By recognizing it as early as possible, we can treat babies in a timely and ideal manner, avoiding these damages.”
Neonatal sepsis is estimated to cause about 200,000 deaths each year worldwide, with the highest rates in low- and middle-income countries. In Canada, the risk is lower, about one in every 200 live births, but higher in premature babies.
Rolling the dice on health
Diagnosing sepsis is a challenge for physicians and families. Symptoms can resemble those of many other diseases, and tests to check for sepsis can take several days, are not always accurate, and are largely only available in hospitals. Uncertainty can delay urgent antibiotic treatment.
“Knowing that sepsis is imminent would also allow doctors more time to determine the appropriate treatment to use,” said co-senior author Dr. Bob Hancock, a professor in the department of microbiology and immunology at UBC. “The consequences of neonatal sepsis are so severe in the most vulnerable individuals that providing early diagnosis to help and guide clinicians could save lives.”
Equitable access to healthcare
Researchers participated in a large study in Gambia where blood samples were taken from 720 babies at birth. Of this cohort, 15 infants developed early-onset sepsis.
The researchers used machine learning to map the expression of genes active at birth, searching for biological markers that could predict sepsis.
“We found four genes that, when combined into a ‘signature,’ could accurately predict sepsis in newborns nine out of 10 times,” said co-senior author Dr. Amy Lee, assistant professor in the department of molecular biology. and biochemistry from SFU. “This was a unique opportunity where samples were available from all the babies in this cohort on the day they were born, meaning we were able to study the genes expressed in the babies with sepsis before they became ill. Most of the “Other studies have only published markers that were present when babies were already sick and, therefore, this would not be a predictive signature.”
“Early recognition of sepsis is vital for the survival of babies, and identifying markers that could allow us to ‘predict’ babies at particular risk would be a huge advantage, as we could then focus on targeted surveillance and treatment.” those babies,” said Dr. Beate Kampmann, who led the clinical component of the study at the MRC Unit in Gambia.
Researchers hope that one day the firm will be incorporated not only into PCR testing in hospitals, but also into portable point-of-care devices.
“There are point-of-care devices available that can assess gene expression, for example, COVID-19 and influenza, with a single drop of blood. They can operate anywhere with a power source, including batteries, and can be used by anyone. Not just trained healthcare providers,” Dr. Hancock said. “These wearable devices could be modified to recognize this ‘signature’ relatively easily and inexpensively.”
The next step of the research would involve a large prospective study to demonstrate that the firm is successful in predicting sepsis in other populations and testing its methodology, and then the development of point-of-care tools for approval by government agencies. relevant.