A groundbreaking new blood test could revolutionize the diagnosis of rare genetic diseases in babies and children, offering faster and more comprehensive results than current methods, according to research being presented at the annual conference of the European Society of Human Genetics.
Although rare diseases are individually uncommon, there are over 7,000 types caused by mutations in more than 5,000 genes, collectively affecting around 300 million people globally. Yet, around 50% of patients with suspected rare conditions remain undiagnosed. Existing diagnostic methods are often slow, targeted to specific diseases, and not always sensitive enough, resulting in years—sometimes decades—of inconclusive tests and emotional turmoil for families.
Dr. Daniella Hock, Senior Postdoctoral Researcher at the University of Melbourne, Australia, is leading a team that has developed a fast, minimally invasive blood test capable of analyzing thousands of proteins in a single, untargeted assessment. Unlike traditional tests that examine gene sequences, this innovative method focuses on proteins—the end products of gene expression and the molecular machinery of cells. By examining how genetic mutations alter protein function, the test can identify the root cause of various diseases.
The test is applicable to a wide range of genetic conditions and even has the potential to identify new diseases. Requiring only 1ml of blood from infants and delivering results in under three days, this proteomic analysis is especially valuable for patients in critical care. When combined with parental blood samples in a trio analysis, it can differentiate between carriers—who have one faulty gene copy—and affected individuals with two, enhancing diagnostic accuracy in recessively inherited diseases.
A study in collaboration with the Melbourne School of Population and Global Health found that implementing this test in clinical settings would cost roughly the same as the current test used for diagnosing rare mitochondrial diseases. However, Dr. Hock’s test can potentially diagnose thousands of other genetic disorders. It identifies over 8,000 proteins in peripheral blood mononuclear cells, covering more than half of known Mendelian and mitochondrial disease genes.
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For patients, a confirmed diagnosis means faster access to appropriate treatments and a clearer prognosis. For families, it provides crucial information for reproductive planning, including options for prenatal or preimplantation genetic testing. Healthcare systems also stand to benefit, as the test could replace numerous expensive and invasive procedures with a single analysis, ultimately reducing costs and improving early intervention.
Dr. Hock emphasizes the transformative impact: “The ability to use so little blood and achieve rapid, reliable results has been revolutionary for families. Trio analysis with familial samples significantly boosts confidence in distinguishing between carriers and affected individuals—surpassing our expectations.”
Professor Alexandre Reymond, Chair of the conference, added: “Non-invasive, agnostic approaches like genome and protein analysis are ushering in a new era of diagnosis, enabling solutions for previously unsolvable cases and offering hope to families around the world.”
Researchers hope the test will soon be adopted as a standard tool in clinical labs for diagnosing rare and genetic diseases.
