In a significant advancement for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children’s Research Institute (MCRI) have developed a revolutionary blood test capable of diagnosing rare genetic diseases in infants and children—often within just a few days.

This rapid test promises to end the long, often painful diagnostic journeys many families endure, replacing expensive and invasive procedures like muscle biopsies with a single, comprehensive test.

Figure 1.Blood test vials held by nurse.

While genome sequencing has already transformed rare disease detection, it still fails to identify a cause in about half of all cases. This new test helps bridge that diagnostic gap by analyzing the impact of thousands of gene mutations at once, potentially leading to faster diagnoses and quicker access to life-saving treatments. Figure1shows Blood test vials held by nurse.

Decoding Clues in Blood

Researchers say the test can swiftly detect abnormalities linked to up to 50% of all known rare genetic conditions.

“If this blood test can diagnose even half of the 50% of cases that genome sequencing currently misses, that’s a huge win,” said Associate Professor David Stroud from the University of Melbourne. “It means many babies can avoid painful and risky procedures like muscle biopsies, which require general anesthesia.”

Professor David Thorburn of MCRI emphasized that rapid diagnosis can dramatically improve outcomes by enabling earlier treatment.

“In tragic cases where a child has passed away due to an undiagnosed genetic condition, this test can still be performed on stored tissue samples,” Thorburn explained [1]. “This not only brings closure to families but also allows for informed IVF decisions to prevent future children from inheriting the same life-threatening condition.”

Speed and Accuracy in Diagnosis

The team tested the new diagnostic method against an existing enzyme test used by the Victorian Clinical Genetics Services at MCRI, with a focus on mitochondrial disorders—serious conditions that impair the body’s ability to produce energy, often leading to severe organ failure and death.

The results were promising. The new blood test proved to be more sensitive, more accurate, and faster at confirming diagnoses of mitochondrial diseases compared to current clinical methods.

Dr. Daniella Hock noted that an economic analysis conducted with the Melbourne School of Population and Global Health showed the test could be offered at a similar price to existing enzyme tests, while being far more cost-effective due to its ability to screen for thousands of genetic diseases.

Thanks to a $3 million grant from the Australian Government’s Medical Research Future Fund, researchers have now launched a study involving 300 patients with a range of genetic conditions to evaluate the broader effectiveness of the new diagnostic tool.

This groundbreaking development could transform how rare genetic diseases are diagnosed, offering earlier answers, improved treatment outcomes, and new hope to families around the world.

References

1. https://interestingengineering.com/health/blood-test-spots-rare-genetic-disorders-fast

Cite this article:

Keerthana S (2025), Scientists Create Groundbreaking Blood Test to Detect Rare Genetic Disorders in Children, AnaTechMaz, pp.413.