Key Points

The simple blood test, developed by researchers from the University of Melbourne and Murdoch Children's Research Institute (MCRI), eliminates the need for costly and invasive procedures.

It can rapidly detect abnormalities in up to 50 per cent of all known rare genetic diseases in a matter of days. The test works by analysing the pathogenicity of thousands of gene mutations at once, potentially replacing thousands of other functional tests, said the team in the research, published in the journal Genome Medicine.

"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," said David Stroud, Associate Professor at University of Melbourne.

"If our blood test can provide clinical diagnoses for even half of the 50 per cent 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," he added.

The team benchmarked their test against an existing clinically accredited enzyme test offered by the Victorian Clinical Genetics Services at MCRI, focussing on mitochondrial diseases.

These are a group of severe rare disorders that rob the body's cells of energy, causing single or multiple organ dysfunction or failure, and potentially death.

The team found, comparatively, their new test is more effective in confirming a mitochondrial disease diagnosis as it's much more sensitive and accurate and can produce faster results.

The 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.

- IANS