New blood test accelerates diagnosis of rare genetic diseases

Dr. Daniella Hock, Senior Postdoctoral Researcher at the University of Melbourne, explained that their approach differs from traditional genetic testing by focusing on proteins, the functional end-products of genes. Instead of sequencing DNA, the method analyzes over 8,000 proteins from just 1ml of blood, offering a broader and more immediate insight into potential disease mechanisms. 

“Our new test can identify more than 8,000 proteins in peripheral blood mononuclear cells (PBMCs) covering more than 50% of known Mendelian and mitochondrial disease genes, as well as enable us to discover new disease genes,” says Dr. Hock. 

• Speed: Results available in less than three days for patients in acute care. 

• Minimally invasive: Requires only a small blood sample from infants. 

• Broad applicability: Can be used to diagnose thousands of diseases and detect new ones. 

• Trio analysis: Testing parents’ samples alongside the child helps distinguish carriers from affected individuals in recessive conditions. 

“When the test is also performed on blood samples from parents we call it trio analysis. In recessively inherited conditions, this helps considerably in differentiating between carriers, who only have one copy of the defective gene, and the affected individual who carries two copies,” says Dr. Hock. 

A recent study by the Melbourne School of Population and Global Health confirmed that the test is cost-comparable to current mitochondrial disease diagnostics, with a much broader reach. 

“We believe that the use of this test in clinical practice will bring considerable benefits to patients, their families and to healthcare systems by reducing the diagnostic time,” Dr. Hock concludes. 

MEDICA-tradefair.com; Source: European Society of Human Genetics (ESHG)