New machine in WA set to be a gamechanger in diagnosing children with rare diseases

Children with rare diseases will be able to get a diagnosis within months instead of years after a ground-breaking diagnostic tool launched in WA.

The Novaseq machine, a state-of-the-art genomic sequencer, will examine a person’s genetic makeup to test for more than 6,000 rare diseases.

Telethon donations of $6 million over the next five years have made the launch of the diagnostic tool possible, while the State Government invested $3 million in crucial support, including a genetic pathologist, clinical geneticist, and genetic counsellor, ensuring comprehensive care for families navigating these challenging journeys.

Tests previously had to be sent interstate or even overseas, forcing families to wait anxiously for up to 12 months for results.

Bayleigh Bucktrout, 12, knows the feeling of having an undiagnosed rare disease all too well.

She grapples with sudden episodes of being unable to breathe, extreme fatigue, fragile bones, and a stature much smaller than her peers.

Despite a number of surgeries on her brain, her teeth, her eyes and her hip, her family remains without a clear diagnosis.

“Bayleigh has had her case sent to America, the Netherlands, Sydney, and her blood tests are currently over in Melbourne,” her mum Jess Ackerman-Davids said.

“I have been fighting since birth for answers, and it has just been a bit of a challenge. She is a walking medical mystery.”

Bayleigh’s story represents many children in WA who battle rare and undiagnosed conditions and have been waiting years for answers.

Health Minister Amber-Jade Sanderson said families would now be able to access world-class testing for rare diseases at PathWest.

“Bouncing around from clinicians to appointment to diagnostics, trying to find answers for your child is heartbreaking and challenging and incredibly expensive,” she said.

“This is the front line of diagnostics and genetics, and we have it right here in Western Australia.”

Genetic Health WA professor Nicholas Pachter said this would support 200 children a year waiting for a diagnosis.

“Working in the clinical genetic services, we would see approximately 300 to 400 undiagnosed children a year,” he said.

“Some of them, we can make a clinical diagnosis, but there is this group of about 200 kids a year where we just do not know the diagnosis, and everything that we do is not helping.

“With this new machine, we will be able to do all of that testing here, and it will also speed up the time because instead of doing all these tests along the way, we have this one test that will hopefully give us the answer.”

Pathwest diagnostic genomics doctor Dimitar Azmanov said this was the next major step for genomic testing in WA.

“It is the next major step for genomic testing here in WA. In the past we have had the ability to diagnose about 30 per cent of all rare diseases while this machine will provide 50 to 100 times more information for all of the patients,” he said.