A new blood test could significantly improve the diagnosis of rare genetic diseases in infants and children. Researchers will present the findings today at the annual meeting of the European Society of Human Genetics.
Rare genetic diseases affect an estimated 300 million people worldwide. There are over 7,000 types of these diseases, caused by mutations in more than 5,000 genes. Yet, about half of patients with symptoms remain undiagnosed. Current testing methods are often slow, target only specific conditions, and may lack sensitivity. As a result, families can face years of invasive testing and uncertainty.
Dr. Daniella Hock, a Senior Postdoctoral Researcher at the University of Melbourne, has led a team that developed a faster and less invasive diagnostic method. Unlike traditional tests that examine genes, this new approach analyzes proteins — the products of gene expression — in the blood.
The method uses just 1ml of blood and can return results in under three days. It is designed to detect abnormalities in thousands of proteins in a single, untargeted test. This allows researchers to see how gene mutations impact protein function and lead to disease.
“The test is especially useful when performed on both the child and their parents. This ‘trio analysis’ helps us identify if a child has inherited two copies of a faulty gene, confirming a diagnosis,” Dr. Hock explained.
For patients, a quicker diagnosis means earlier access to treatment, when available, and an end to long diagnostic journeys. Families may also benefit from genetic counseling and reproductive planning options. For healthcare systems, the test could reduce costs by replacing multiple targeted tests with one comprehensive analysis.
In collaboration with the Melbourne School of Population and Global Health, researchers found that the cost of this new test is similar to existing tests for mitochondrial diseases. However, the new method can potentially identify thousands of different conditions. It detects over 8,000 proteins in peripheral blood mononuclear cells, covering more than half of all known Mendelian and mitochondrial disease genes.
Dr. Hock hopes the test will become a routine part of clinical diagnostics. “Using such a small blood sample and producing fast, reliable results has been a game-changer for families. The trio analysis improves accuracy and gives us more confidence in our diagnoses,” she said.
Professor Alexandre Reymond, Chair of the conference, supported the findings. “Non-invasive and wide-reaching approaches like genome sequencing and protein analysis will help us diagnose more quickly and solve previously unsolvable cases,” he said.
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