Ultra-rapid genetic testing: a fast-track to diagnosis and treatment
Melissa Currie
Communications Manager at VCGS
Critically ill children are now receiving funded, rapid genetic testing, reducing diagnosis waits from months to days and fast-tracking access to life-saving treatment thanks to the Acute Care Genomics program.
A scientist at VCGS aliquoting genetic samples in the laboratory.
"Each person has 3 billion letters of genetic code. We are looking for a single spelling mistake that is causing somebody’s condition.” - Professor Zornitza Stark, Clinical Geneticist at VCGS and Lead Investigator of the Acute Care Genomics program
When babies and children are very sick with rare diseases, it's crucial for doctors to diagnose them quickly and accurately to provide the best care. Established in 2018 and led by Australian Genomics, the Acute Care Genomics program pioneered a national approach to delivering ultra-rapid genomic testing for babies and children admitted to intensive care with suspected genetic conditions.
Over a two-year period, the study offered a special test called whole-genome sequencing to 290 families. Using cutting-edge DNA sequencing technology allowed researchers to examine blood samples from both children and their parents, enabling them to identify specific genetic variations.
This research emphasises the importance of using whole-genome sequencing (WGS) as a regular part of the diagnostic process. Doing so can lead to improved outcomes for patients and families affected by rare diseases. As a result of this study, two state governments are now providing regular funding for this test, ultimately helping sick infants and children get accurate diagnoses faster.
Revolutionising genetic testing
New advances in genetic testing have greatly improved the diagnosis of rare diseases. These tests use the individual's genetic information to identify the cause of their illness. Compared to older tests, genetic testing is now five times more likely to provide a diagnosis and can be used to guide immediate medical decisions for seriously ill infants and children suspected of having genetic conditions.
In this study, researchers expanded a national program to diagnose rare diseases in critically ill infants and children using rapid WGS. At the same time, it explored other types of genetic analysis to improve the accuracy of diagnosis.
Rapid whole genome sequencing: the impact
There are different types of genetic tests available, but WGS is becoming the preferred method, as it examines all the genes in a person's DNA and can detect various types of genetic changes in a single test.
The results of the study were recently published in the latest Nature Medicine journal. Using rapid WGS, it only took 2.9 days to receive the test results, a significant improvement compared to the usual six months. The doctors were able to diagnose 47 per cent of the cases using this test. For the remaining undiagnosed children, additional testing was conducted to explore different aspects of their genes. As a result, 19 more diagnoses were made, increasing the overall diagnosis rate to 54 per cent.
This breakthrough not only saves children from undergoing invasive tests but also allows them to leave the hospital earlier. It grants families the opportunity to make informed decisions regarding their child's treatment or connect with others facing the same condition. In certain cases, a swift diagnosis can be lifesaving, enabling prompt initiation of crucial treatments.
The conditions found ranged from issues with the structure of chromosomes to problems in how genes are assembled. With a diagnosis in hand, doctors were able to modify the care of patients, leading to more tailored treatments, informed decisions about surgeries and transplants, and appropriate palliative care. These changes positively impacted on the lives of 60 per cent of the patients.
These findings highlight the effectiveness of employing diverse approaches in studying genes, enabling the rapid diagnosis of rare diseases.
“Each person has 3 billion letters of genetic code,” says Professor Zornitza Stark, Clinical Geneticist at VCGS and the study’s lead investigator. “We are looking for a single spelling mistake that is causing somebody’s condition.”
Continuing to innovate in this space will open more doors to a future where genetic diagnoses can be made swiftly and accurately, revolutionising healthcare and improving the lives of countless individuals.
Following the conclusion of the successful Acute Care Genomics research project, this ultra-rapid genomic testing, with a turnaround time of five days or less, is now available through VCGS as a routine clinical service.