Media release

From: Victorian Clinical Genetics Services

Key Points:

• Victorian Clinical Genetics Services (VCGS) has launched the most expansive reproductive carrier screening service in Australia, covering more than 1000 genes.
• prepair 1000+ is a convenient saliva-based test that provides couples with an assessment of their chance of having children with a serious inherited condition. This provides important information for reproductive decision-making.
• Reproductive genetic carrier screening is relevant to everybody - either before or in early pregnancy, regardless of family history, ethnic background or ancestry.

Victorian Clinical Genetics Services (VCGS) has launched the most expansive reproductive carrier screening service in Australia, covering more than 1000 genes and their associated inherited conditions.

prepair 1000+ is a convenient saliva-based test that provides couples with an assessment of their chance of having children with a serious inherited condition, which is important for reproductive decision-making.

VCGS has a long history in genetic carrier screening, being an early provider of general population carrier screening for cystic fibrosis (CF) in 2006 and developing the first three-condition carrier screen - adding fragile X syndrome (FXS) and spinal muscular atrophy (SMA) in 2012. In 2018, they became key partners in the Mackenzie’s Mission research study, which looked at how best to implement carrier screening services nationally and offered testing to over 10,000 couples.

In March last year, the Federal Government announced it would make genetic carrier screening for CF, SMA and FXS accessible under Medicare, with the funding forming part of the 2022/23 Federal Budget. Further efforts are underway to investigate funding for carrier screening for a wider range of conditions.

“Reproductive genetic carrier screening is relevant to everybody - either before or in early pregnancy, regardless of family history, ethnic background or ancestry,” said VCGS Group Leader, Reproductive Genetics Dr Alison Archibald. “About 1 to 2 percent of people who undergo genetic carrier screening learn they have an increased chance of having children with a serious inherited condition. Whilst this can be difficult news, we find people value knowing this information as it informs decision-making around having a family.”

Patient story

Yolanda and Mike Shennan were one of the first couples to go through the new prepair 1000+ screening service. Their first pregnancy with their son Hudson had taught them an important lesson - you don’t need to have a family history of a genetic condition to be a carrier.

Shortly after his birth, Hudson was diagnosed with 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.

Prior to their pregnancy, Yolanda and Mike had consulted with a doctor regarding general pre-conception tests. As neither of them had any family history of genetic conditions, carrier screening was not explained or offered to them. After Hudson’s diagnosis, Yolanda and Mike learned they were both genetic carriers for PKU. The fact that they hadn’t had the opportunity to fully consider carrier screening left them feeling both frustrated and powerless.

They are now considering their second pregnancy and Yolanda and Mike want to be fully informed of their genetic chances so this time, they were proactive in seeking 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 and that there are a lot of other families facing similar challenges,” said Yolanda.

The new prepair 1000+ screen has provided Yolanda and Mike with a comprehensive screening option and given them reassurance going into another pregnancy. “We knew that if there were any other genetic conditions that could be passed on we’d want to know about them,” said Mike.

Available for interview:

Dr. Alison Archibald, Group Leader, Reproductive Genetics at VCGS

Yolanda and Mike Shennan