Australian researchers from the University of Melbourne and the Murdoch Children's Research Institute have developed (via NotebookCheck) a revolutionary blood test that can diagnose rare genetic diseases in children in just a few days.
This technology could replace expensive invasive procedures that previously took months or even years. The test analyzes the pathogenic potential of thousands of genetic variations simultaneously, significantly speeding up the diagnosis process.
Genome sequencing has already helped diagnose rare diseases, but it fails to provide answers in about 50% of cases. A new blood test fills that gap, allowing doctors to quickly identify the cause of the disease and begin targeted treatment.
The researchers tested their method on mitochondrial diseases, which cause organ dysfunction due to a lack of energy in cells, and found that the new test was more accurate and faster than traditional enzyme assays.
Additionally, it can be used to analyze stored tissues, which will help families who have lost a child to an unknown genetic disease get answers to the causes of the disease and plan future pregnancies with this information.
The project has received A$3 million (about $1.95 million) in funding and researchers are currently recruiting 300 patients to further test the test’s effectiveness. If the results are positive, the blood test will become an official diagnostic service in clinical genetics services in Australia.
This development could change the approach to diagnosing rare diseases, reducing waiting times and improving the chances of successful treatment for children.