Researchers from the University of Melbourne and the Murdoch Children’s Research Institute (MCRI) have introduced a new blood test designed to expedite the diagnosis of rare genetic diseases in infants and children.
The researchers believe that this breakthrough could reduce the reliance on costly, invasive procedures while allowing earlier access to treatment pathways.
According to the University of Melbourne, historically, genome sequencing has played a key role in diagnosing rare diseases but has been effective in only around 50% of cases. For the remaining patients, further functional tests are required to establish if a gene mutation is causing the disease.
This traditional approach can extend over several months or years and often does not guarantee definitive results, as many functional tests are applicable to only a limited number of rare diseases.
The newly developed blood test, as per research published in the Genome Medicine journal, claims that it can quickly identify abnormalities in up to 50% of known rare genetic diseases within a few days. The test achieves this by simultaneously analysing the pathogenicity of thousands of gene mutations, potentially substituting numerous other functional tests.
University of Melbourne associate professor David Stroud said: “A disease is rare if it affects fewer than one in 2,000 people and there are more than 7,000 different rare diseases, most of which have a genetic origin and many of these diseases are serious and progressive.
“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 team benchmarked their test against an existing clinically accredited enzyme test provided by Victorian Clinical Genetics Services at MCRI, with a focus on mitochondrial diseases.
These disorders impact the energy levels within body cells, leading to organ dysfunction or failure and can be fatal. The study found that the new blood test was more efficient in confirming mitochondrial disease diagnoses due to its increased sensitivity and accuracy, delivering faster results.
Plans are underway for this blood test to be offered as part of diagnostic services at Victorian Clinical Genetic Services.
Murdoch Children’s Research Institute professor David Thorburn said: “By providing patients and their families with a rapid clinical diagnosis, the patient has a greater chance at survival as they can begin treatment far sooner, if available.
“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.”
