Genomic medicine is changing lives for kids and families

Cases like Sebastian's demonstrate the incredible power of genomic research.

When Sebastian was born in late 2018, high blood pressure was making his heart work too hard. Rather than order a barrage of tests, Murdoch Children's Research Institute and Acute Care Genomics study into the impact of rapid genomic sequencing was able to help.

Our acute care genetics team sequenced Sebastian's DNA to see if the problem was genetic.

In just 66 hours Sebastian was diagnosed with a rare genetic disease generalised arterial calcification of infancy (GACI). GACI leads to increased calcium deposits in the arteries, making it harder for the heart to push blood around. The rapid diagnosis meant he was given effective treatment, quickly. In the past, such a diagnosis may have taken weeks or months – if it was made at all.

A few months later, Sebastian's condition stabilised. "He began to do really well," says mum Monique. "He kicked a heap of goals he'd missed up until that point."

Genomic research is the study of all our genetic information which is all 23,000 genes in our body.

Genomic medicine uses that information to more accurately diagnose and treat disease, a process that is rapidly transforming healthcare. In the case of rare childhood syndromes, genomics can increase the diagnostic rate fivefold, and reduce the cost of diagnosis by 75 per cent.

Murdoch Children's is one of the world's most impactful child health research institutes, with significant strength in genomics. This allows us to make major differences for children and families, and to build and maintain strong and equal partnerships with other global leaders.

Our program of ultra-rapid genomic testing sequencing the DNA of critically ill babies and children – is revolutionising the diagnosis and treatment of rare and potentially severe genetic conditions. Results now take days rather than months.

This remarkable advancement brings with it hope and some challenges for scientists, clinicians and families.

Murdoch Children's and Victorian Clinical Genetics Services (VCGS) clinical geneticist Associate Professor Zornitza Stark leads a team at the vanguard of making acute care genomics routine healthcare practice in Australia. Genomic testing is becoming standard paediatric care in the UK and US, where governments are moving towards funding the tests.

Many more children are now benefiting from early diagnosis, accurate prognosis, better-tailored management and refined treatment options.

"Providing fast and accurate answers for families is just the beginning," says Zornitza, highlighting the possibilities for genomic research and medicine that are quickly becoming reality. "Implementing rapid genomics into paediatric acute care has made a huge difference in diagnosis and treatment."

The value of rapid testing

The potential impact of rapid genetic testing is immense. Rare genetic conditions affect fewer than one in 2000 people but make a major contribution to the chronic disease burden by significantly increasing medical costs, stress and time requirements for families, and reducing children's ability to have a normal childhood.

Despite being individually rare, collectively a rare genetic disease affects one in every 12 Australian births.

At Murdoch Children's, alongside our partners in VCGS, a highly collaborative, cross-disciplinary 'rapids team' of clinical geneticists, paediatricians, genetic counsellors, bioinformaticians and medical scientists works on the tests around the clock.

As in Sebastian's case, results can be achieved in just days.

The clinical team keeps families informed the entire time and provides pre and post-test counselling.

In the short term, this has meant swifter clinical decision-making, better treatment plans and faster recovery. In the long term, it helps families make more informed choices and access vital support networks.

Stronger together

Our strong partnerships have allowed us to combine resources with other organisations to massively increase our genomic research capacity.

Genomic research addresses individually rare and ultra-rare diseases, which means a researcher in Melbourne or even Australia might never have seen that particular genetic difference before. Worldwide collaboration increases opportunities to share observations and knowledge.

In the Acute Care Genomics project, we joined forces with Australian Genomics, The Royal Children's Hospital and multiple other sites around Australia. More than half the children in this pioneering study received a diagnosis, and three-quarters of those had their care changed.

The rapid turnaround of results reduces the 'diagnostic odyssey' that many children undergo while families seek a diagnosis. This can go on for years and often involves invasive tests.

"We incrementally improved our processes to deliver results in shorter and shorter timeframes," Zornitza says. "We've shown that rapid genomic sequencing is highly useful in the acute paediatrics setting and can be delivered at scale in a busy neonatal intensive care unit.

"Rapid genomic testing is absolutely ready for full-scale implementation in the Australian healthcare system."