A team at the University of Melbourne in Australia has developed a new blood test for the diagnosis of rare genetic diseases in babies and children.
This test, created in collaboration with Murdoch Children’s Research Institute, has the potential to replace costly and invasive procedures.
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According to new research, this test can identify up to 50% of all known rare genetic diseases rapidly.
It can assess the pathogenicity of several gene mutations at once without needing to conduct several other functional tests.
University of Melbourne associate professor David Stroud said: “If our blood test can provide clinical diagnoses for even half of the 50% of patients who don’t get a diagnosis through genome sequencing, that’s a significant outcome as it means those patients don’t have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn’t come without risks.”
The research team compared their blood test to a clinically accredited enzyme test from the Victorian Clinical Genetics Services at MCRI, focusing on mitochondrial diseases.
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By GlobalDataThese disorders severely impact energy production in cells, leading to organ dysfunction or failure.
The new test demonstrated higher sensitivity and accuracy, delivering faster results than the existing method.
The researchers have also received an A$3m ($1.9m) grant from the Australian Government’s Medical Research Future Fund.
This funding will aid them in recruiting 300 patients with various genetic disorders into a study to assess the diagnostic test.
The institute said the blood test will be offered as a diagnostic service by the Victorian Clinical Genetics Services in the future.
