Breakthrough Blood Test Could Save Thousands of Sick Children From Risky Surgeries

New Delhi(The Uttam Hindu): Researchers in Australia have made a new blood test that can quickly diagnose rare genetic illnesses in infants and children. The easy blood test, developed by researchers from Murdoch Children's Research Institute (MCRI) and the University of Melbourne, does away with the necessity of expensive and risky procedures. It is able to quickly identify abnormalities in as many as 50 per cent of all recognized rare genetic disorders within a few days. The test, according to the team in the study, published in the journal Genome Medicine, does so by examining the pathogenicity of thousands of gene mutations simultaneously, possibly eliminating thousands of other functional tests.

"A disease is rare if it occurs in fewer than one in 2,000 individuals and there are over 7,000 distinct rare diseases and the majority of them have a genetic cause and many of them are serious and progressive," said David Stroud, Associate Professor at University of Melbourne. "If our blood test can give clinical diagnoses to half of the 50 per cent of patients who would not be diagnosed by genome sequencing, that is a great achievement because it means those patients won't have to go through unnecessary and invasive tests like muscle biopsies, which for a baby involves general anaesthetic and that isn't risk-free," he continued.

The team compared their test to a clinically certified enzyme test that is currently available from the Victorian Clinical Genetics Services at MCRI, targeting mitochondrial diseases. These are a collection of severe rare disorders that steal the cells of the body's energy, leading to single or multi-organ dysfunction or failure, and possibly death.

The researchers discovered, comparatively, their new test is superior at validating a diagnosis of a mitochondrial disease because it's considerably more sensitive and accurate and can deliver quicker results. The researchers now plan to recruit 300 patients with various types of genetic disorders for a study to explore the wide-ranging usefulness of their diagnostic test.