Source: Dave Herholz

Critically ill infants in the Australian state of Victoria are now to be given access to rapid genomic sequencing under a new government-funded programme. It is hoped that the programme, announced late last month, will enable patients to achieve a diagnosis up to ten times faster than before.

Infants who are born with a rare disease frequently go for months or years without being given an accurate diagnosis, and this can severely impact their treatment and care. Recent advances in our ability to sequence patients’ genomic data may be able to change that, providing clinicians with a clear indication of the genes that are involved in the patient’s condition. Some clinical examples of this have already seen some success, such as Rady Children’s Institute and Cincinnati Children’s in the US, and Great Ormond Street Hospital in the UK. These projects have enabled critically ill patients to be diagnosed and thus be given access to tailored therapies, improving treatment outcomes.

In a recent study conducted by the Melbourne Genomics Health Alliance, the Murdoch Children’s Research Institute, the Royal Children’s Hospital, and the Monash Children’s Hospital it was found that this type of testing could achieve a diagnosis up to ten times quicker than traditional methods.

“As a parent I can only imagine how awful it would be to have a seriously sick child and not know what was wrong with them or what the best treatment is,” said Victorian Premier Daniel Andrews. “This technology is changing that and giving parents peace of mind.”

Notably, the study also demonstrated how these tests, which are typically fairly expensive to run, could save money in the long term. By achieving faster diagnosis and more targeted treatment strategies, patients spent less time in hospital and received fewer tests overall. As a result, more than A$500,000 ($383,000 or £272,000) was saved over the course of the 18 month study, which involved 40 paediatric patients.

In the past few years, the Victorian government has invested A$33.3M ($25.5M, £18.1M) in genomic sequencing, some of which funded this study. The success of this research has now ensured that the project is being extended nationally as part of the Australian Genomics Health Alliance, with a further A$2.4M ($1.9M, £1.3M) in funding. This expansion will give more critically ill paediatric patients across Australia access to rapid DNA sequencing.

“Watching their baby in intensive care is heartbreaking for parents,” said Jill Hennessy, the Minister for Health in Victoria. “These tests help our sickest babies with rare conditions get diagnosed faster so they can get back home sooner – and, hopefully, lead happy and healthy lives.”