Australian Blood Test Rapidly Diagnoses Thousands of Rare Genetic Diseases

Researchers from the University of Melbourne and Murdoch Children's Research Institute have developed a groundbreaking, minimally invasive blood test that rapidly diagnoses rare genetic diseases in infants and children by analyzing thousands of proteins simultaneously. Unlike traditional genetic tests that focus on DNA sequencing, this proteomic approach assesses how gene mutations impact protein function, enabling detection of functional anomalies across a wide range of disorders, including previously uncharacterized ones. The test requires only 1ml of blood and provides results in under three days, dramatically reducing diagnostic times and avoiding invasive procedures such as muscle biopsies. By incorporating samples from both parents—a method called trio analysis—the test enhances accuracy in distinguishing between carriers and affected individuals. This innovation promises significant benefits for families by enabling earlier access to appropriate treatments and reproductive options, while also reducing healthcare costs by potentially replacing numerous targeted tests with a single comprehensive assay. The test has demonstrated superior sensitivity and cost-effectiveness, particularly for mitochondrial diseases, compared to existing clinical enzyme tests.