Medicare unlocks access to carrier screening for more Australians
Dr. Alison Archibald
Group Leader, Reproductive Genetics at VCGS
Starting today, all eligible Australians will have the opportunity to access subsidised screening, thanks to its inclusion in the Medicare Benefits Schedule.
"VCGS has a rich history in genetic carrier screening, pioneering general population carrier screening for CF in 2006 and introducing the first three-condition carrier screen (including FXS and SMA) in 2012."
- Dr. Alison Archibald, Group Leader, Reproductive Genetics at VCGS
For a long time, Karen Lipworth faced challenges in conceiving. After some time into her reproductive journey, she discovered the reason for these challenges - a genetic change in the gene associated with fragile X syndrome (FXS). “It was a massive shock to me, it really changed everything,” says Karen.
FXS is a genetic condition that results from a genetic change in one of the X chromosome genes, leading to a spectrum of physical, developmental, behavioural, and emotional issues that can vary in severity.
Karen sought consultation from three different doctors before undergoing FXS testing, and the diagnosis came as a profound and unexpected revelation for her.
Although receiving the news was emotionally challenging, the testing offered crucial insights. “Doing that testing and having that awareness, created an opportunity to make some informed decisions and that was really important," says Karen.
"I think as soon as people start thinking about having a family, they should be offered genetic screening because that’s going to make you aware if you are at risk of any of these conditions and then that might determine the path you might choose."
Karen has now welcomed daughter, Emilia, who is unaffected by FXS.
Photo of Karen and baby Emilia
Equitable access
For many Australian families, genetic carrier screening has traditionally been financially challenging, adding an extra burden to the costs associated with pregnancy.
However, starting today, all eligible Australians will have the opportunity to access subsidised screening, thanks to its inclusion in the Medicare Benefits Schedule.
This screening encompasses cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) and is accessible to individuals who are pregnant, planning to become pregnant, or their reproductive partners.
The Federal Government allocated $80 million last year to establish this new Medicare item, to improve access to screening for families.
VCGS: leaders in carrier screening
VCGS has a rich history in genetic carrier screening, pioneering general population carrier screening for CF in 2006 and introducing the first three-condition carrier screen (including FXS and SMA) in 2012. This test is called prepair 3.
Our research has revealed that one in 20 individuals in Australia are carriers of CF, FXS, or SMA, and approximately one in 1,000 couples face the risk of having an affected pregnancy.
In 2018, we joined the Mackenzie's Mission research study, named after Mackenzie, daughter of Jonathan and Rachael Casella who passed away at just seven months of age after a debilitating battle with SMA.
This study was aimed at optimising carrier screening services in Australia and provided testing to over 10,000 Australian couples.
Yolanda and Mike’s story
Yolanda and Mike’s son Hudson has phenylketonuria (known as PKU). PKU is a genetic condition affecting how the body processes phenylalanine – an amino acid found in most foods. PKU requires lifelong treatment and can cause serious health problems if it is not detected early or properly managed. After Hudson’s diagnosis, Yolanda and Mike learned they were both genetic carriers for PKU.
Having had a child with a genetic condition, they wanted to be fully informed going into their next pregnancy and sought out carrier screening. “These conditions might come across as rare on paper, but once you have a diagnosis come up you realise it can happen to anyone,” says Yolanda.
Yolanda and Mike chose the prepair 1000+ screening, which provided them with peace of mind. “We knew that if there were any other genetic conditions that could be passed on, we’d want to know about them,” says Mike.
Here to help
All families are different, and carrier screening is relevant to everyone. The decision to undergo carrier screening and selecting the right option is a personal one.
Our genetic counselors are here to address your carrier screening inquiries. They can assist you in weighing the advantages and disadvantages, helping you determine the most suitable choice for your unique circumstances.
Contact our team:
P 03 9936 6402
E [email protected]