Imagine not knowing what is making your baby sick.

You and the medical team can't make informed decisions about the best care for your child. You don't know whether any other children you might have will be at risk. And you can't reach out to other families experiencing the same condition for support.

For too long, that has been a terrible reality for parents of children with unknown genetic conditions. But thanks to Whole Genome Sequencing (WGS), the latest tool in genomic medicine, things are changing fast.

WGS is truly revolutionary. It gives doctors the ability to search within the genome for an answer. It's transforming how children with rare genetic conditions are treated, giving families new hope.

One human genome is more than 99 per cent identical to another – but it's the less than one per cent difference that can provide medical insights into how these genetic variations affect a patient's care.

WGS, available at Victorian Clinical Genetics Services (VCGS), a wholly owned subsidiary of Murdoch Children's Research Institute, maps all three billion 'letters' that make up a person's DNA – that's three times the number of stars in the Milky Way. The order and sequence of these letters contain valuable information about someone's genetic predisposition to disease.

The sheer amount of information available through WGS is proving incredibly valuable to find answers for sick children with previously undiagnosed conditions, but it needs specialist research and clinical interpretation to deliver the best outcomes.

Associate Professor Sue White, VCGS Deputy Clinical Director, says WGS is helping to deliver precision medicine based on an individual's genome, rather than a one size fits all approach.

"Tools like WGS can help us better understand the mechanisms that cause an individual child's disease or condition. It allows us to tailor a patient's care for better outcomes in a way that is truly personalised."

In 2019, VCGS received NATA accreditation, the highest standard for laboratories. They believe they are setting the national benchmark for the provision of genomic services with a fully integrated laboratory and clinical WGS service.

For VCGS CEO, Dr Damien Bruno, this impressive achievement is a sign of the huge potential of WGS. "We are exceptionally proud to receive NATA accreditation and global recognition as a WGS provider of the highest quality standard," he says, "Whole Genome Sequencing has had a rapid transition from research to clinical use. We're entering into a new era where precision medicine has the potential to transform and save lives."

Taking research from the lab to the clinic

Before Whole Genome Sequencing (WGS) became available, traditional genomic testing only investigated the parts of our DNA that code for proteins. For some of the very sick babies who are tested, this is enough for doctors to find out what has gone wrong, but many families are still left searching for answers.

Every day brings new families to VCGS with complex questions about their child's health, which makes rapid translation from the research lab and into clinical practice essential to improve the lives of these children and their families.

For the VCGS head of Genetics and Genomics and MCRI researcher, Dr Sebastian Lunke, the ability to fast-track WGS from research and move it into clinical practice means that children and their families in Australia now have access to the best testing in the world.

"VCGS is critical in enabling translation of the research at VCGS and MCRI into clinical practice. We have had a profound impact on the accessibility of clinical genomic testing in Australia. With WGS, clinicians can now use world-leading tests that have an immediate impact on children and their families."

VCGS, as the translation partner of MCRI, has been pivotal globally in helping to provide answers for these families by fast-tracking genomic research into everyday clinical practice for clinicians. VCGS provides genetic testing for over 160,000 Australians each year. The close relationship between clinical delivery and MCRI research touches the lives of many.

As genomic sequencing becomes more common in clinical practice, it's essential for clinicians to be able to draw on the highest quality services and interpretation to use genomic testing.