New Blood Test May Speed Up Diagnosis of Rare Childhood Diseases

The challenging task of diagnosing uncommon genetic ailments in infants has remained labor intensive for a long period of time. Fortunately, researchers from Australia developed a new promising blood test that has the potential to simplify the process of identifying these intricate diseases.

Scientists at the University of Melbourne have created an innovative approach that assesses the impact of genetic alterations by analyzing the proteins present in the baby's blood. Their findings, published in Genome Medicine, could provide life-changing answers for families in just days, rather than months or years.

“In most cases, people suspected of a rare disease undergo genomic testing, which revolutionised their diagnosis, but typically only leads to a diagnosis about 50% of the time,” said Dr. David Stroud, the co-author of the study from the University of Melbourne.  

The Diagnostic Challenge of Rare Genetic Diseases

Rare diseases such as cystic fibrosis or mitochondrial disorders often begin a long “diagnostic odyssey.” Typically, children suspected of having a rare disease undergo genomic testing, which can provide definitive answers in only 30-50% of cases.

For the rest, parents and healthcare providers navigate a maze of additional procedures, some highly invasive, such as muscle biopsies under general anesthesia,  to understand which genetic changes are actually causing the disease.

A new way to diagnose: DNA over proteins only

The new test developed by Dr. David Stroud and his team takes a different approach. Instead of focusing solely on DNA, it examines the proteins inside a patient’s blood cells and compares them to those of healthy individuals.

The result? A much faster, more accurate diagnosis that doesn’t rely on invasive procedures.

Game changer for mitochondrial disorders

The test has already shown great promise for diagnosing mitochondrial diseases, a group of rare conditions that affect the energy-producing structures in our cells.

This new method not only outperformed current gold standard tests, but also helped diagnose patients whose conditions had not previously been detected by genome sequencing. The test requires just 1ml of blood from a newborn, compared to a muscle biopsy in traditional methods.

Professor David Thorburn, co-author of the study, noted that this proteomics-based test could increase diagnostic success rates to 50-70%, potentially changing how clinicians approach rare diseases.

Broad applications and long-term benefits

While the study focuses on mitochondrial diseases, the researchers believe the approach could eventually be applied to half of the 7,000 known rare diseases. There is no doubt that this test covers a wider range of disorders, saving both time and healthcare cost, but at the same time is also a little bit costly as compared to the current methods.

In addition to improving treatment options, a confirmed diagnosis could help families plan for future pregnancies, opening the door to prenatal testing.

Experts are praising the development.

Experts not involved in the study are calling it a major step forward. Professor Michal Minczuk of the University of Cambridge said the method was robust, fast, and minimally invasive.

Professor Robert Pitceathly of UCL echoed this, saying the next step was to integrate the technology into NHS diagnostic services for wider public access.  “The next step is broader validation and integrating this technology into NHS diagnostic services to improve patient outcomes,” he said.

A Potential Development for Pediatric Genetic Medicine

The ability to offer answers earlier, utilize less invasive procedures, and expand the range of conditions diagnosed could potentially ease suffering for thousands of families impacted by rare genetic disorders. This marks a crucial development in genetic medicine geared toward children and one that may change how practitioners approach the treatment of rare diseases.

Reference:

1. Davis, Nicola. “Blood Test Developed That Could Speed up Diagnosis of Rare Diseases in Babies.” The Guardian, May 23, 2025. https://www.theguardian.com/science/2025/may/23/blood-test-could-speed-diagnosis-rare-diseases-babies.

2. Hock, David H., Nicholas J. Caruana, Lara N. Semcesen, et al. “Untargeted Proteomics Enables Ultra-Rapid Variant Prioritisation in Mitochondrial and Other Rare Diseases.” Genome Medicine 17, no. 58 (2025). https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01467-z.BioMed Central

(Input from various sources)

(Rehash/Muhammad Faisal Arshad/MSM)