Scientists develop breakthrough blood test for rare genetic disorders in children

Yahoo

24-05-2025

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can accurately diagnose rare genetic diseases in infants and children, potentially within days.
The new test could spare families from months or even years of uncertainty, replacing costly, invasive procedures like muscle biopsies with a single, comprehensive diagnostic tool.
While genome sequencing has transformed the landscape of rare disease detection, it still fails to deliver answers in about half of all cases. The new blood test bridges this diagnostic gap by assessing the pathogenicity of thousands of gene mutations at once, dramatically accelerating the path to treatment and hope for affected families.
Researchers say the new blood test can rapidly detect abnormalities in up to 50 percent of all known rare genetic diseases.
'If our blood test can provide clinical diagnoses for even half of the 50 percent 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,' University of Melbourne Associate Professor David Stroud said in a release.
Murdoch Children's Research Institute Professor David Thorburn said that by providing patients and their families with a rapid clinical diagnosis, the chances of survival increased, as treatment, if available, could begin much sooner.
"Even in cases where a child has died from an undiagnosed genetic disease, this new test can be carried out on tissue samples to determine the genetic mutation responsible for their death. Such diagnoses not only provide closure to families, but this information can also be used in IVF to help the parents to have future children who have not inherited the life-threatening disease,' Thorburn said.
The research team reportedly benchmarked their new test against an existing clinically accredited enzyme test provided by the Victorian Clinical Genetics Services at MCRI, with a focus on mitochondrial diseases—a group of severe and rare disorders that deplete the body's cells of energy, potentially leading to organ dysfunction or failure, and even death.
They found that, in comparison, their new test was more effective in confirming a mitochondrial disease diagnosis, being significantly more sensitive, accurate, and capable of delivering faster results.
'A recent health economics analysis in collaboration with the Melbourne School of Population and Global Health showed that our test could be offered at a similar cost to the enzyme test that is currently offered clinically for mitochondrial diseases, but our test is much more cost-effective as it can test for thousands of different genetic diseases, whereas other functional tests are mostly targeted to a small number of genetic disorders,' Dr Daniella Hock said.
"Thanks to a $3 million Australian Government Medical Research Future Fund grant, researchers are now in the process of recruiting 300 patients with a range of different genetic disorders to participate in a study to investigate the broad utility of their diagnostic test," he added.
It is expected that the test will eventually be offered as a diagnostic service through the Victorian Clinical Genetic Services.
The new research has been published in the journal Genome Medicine.