Whole Genome Sequencing pilot helps patients and families of rare disease 

 A successful Genetic Health Queensland pilot project offering Whole Genome Sequencing (WGS) has helped over 800 young people in Queensland since commencing the trial in 2021. 

Dominic and mum Amanda recently went through the WGS program

As part of the state-wide service program, Genetic Health Queensland recruited 885 under 18-year-olds seeking a genetic diagnosis, in a collaboration between Metro North Health and Illumina. 

While testing is not complete for all the recruited patients yet, many patients and their families have been given a diagnosis through WGS that was not otherwise possible. 

One of these patients is 16-year-old Dominic, who recently received a diagnosis of Malan syndrome ahead of his birthday. 

Just 10 people in Australia are diagnosed with Malan syndrome, signifying the rarity of Dominic’s condition which is the result of a change in the NFIX gene. 

For Dominic’s mum Amanda, the diagnosis has allowed her to connect with other patient families to share advice and info.   

“Up until the 1st of February, we always just said he had Dominic syndrome, because he was always one and his own – but going forward things will be interesting, as the diagnosis has opened up a whole chapter for us,” Amanda said.  

“Having a diagnosis doesn’t change anything for Dominic, but it’s good to know there is a name for it and that we can share information with other families too.”  

Director of Genetic Health Queensland Professor Julie McGaughran said the WGS project had allowed so many patients like Dominic to get a name for their rare disease.  

“It has been great to have access to state-of-the-art testing through this project, with Metro North Health and Illumina,” Dr McGaughran said.  

“We hope the constant improvements in genomic testing will enable more families to end their diagnostic odyssey and understand more about their child’s condition.”