VCGS now offers an advanced diagnostic test for brain tumours, made accessible through a subsidy from the Victorian Government. 

Senior Project Officer, Research Genomics at VCGS 

New subsidy for cutting-edge brain cancer diagnostic test

_Pictured: Olivia Phelan with Victorian Minister for Health, Mary-Anne Thomas on a tour of the VCGS labs._  

**"It makes me excited to think that more people will have the same chance that I had. I think it's so important that we can reach as many people as possible. I'm so healthy today and I want as many young children as possible to grow up and have the best chance at life."**
_- Olivia Phelan, brain cancer survivor_

Patients with brain tumors now have easier access to a groundbreaking diagnostic test, thanks to a new subsidy announced by the Victorian Government. This initiative will cover the cost of methylation array profiling, an advanced diagnostic tool that recently moved from research labs to clinical use. 

Since December 2022, VCGS has been offering this innovative technology. Methylation array profiling allows doctors to quickly determine the most effective treatments, increasing the chances of successful outcomes and reducing long-term side effects for patients. Australia is now one of the few countries, alongside the United States, Canada, and the United Kingdom, to offer this clinically validated technology through VCGS laboratories. 

Previously, patients had to pay for this test unless they were part of a research study. Now, thanks to funding from the Victorian Department of Health through the Victorian Cancer Agency, the cost will be covered for 100 Australian patients. This subsidy aims to remove financial barriers to testing, making it more accessible.  

The Robert Connor Dawes (RCD) Foundation has been instrumental in helping bring this important test to VCGS. The funding will assist VCGS, and the RCD Foundation evaluate the test's economic benefits and its impact on patient treatment and outcomes. The goal is to have the test covered by existing healthcare funding programs.  

**Olivia's story** 

Olivia Phelan was 15 in January 2017, when she was diagnosed with ependymoma, a form of brain cancer. At the time, Olivia was eligible to participate in the [AIM Brain Project](https://rcdfoundation.org/aim-brain/), an initiative by the RCD Foundation. The clinical trial provided rapid access to the most accurate diagnostic information about her tumor. 

"It was very scary," says Olivia. "Not knowing what my course would look like was probably one of the most frightening things." 

Thanks to the clinical trial, Olivia avoided multiple surgeries and much more aggressive chemotherapy and radiation. In the end, she only needed two rounds of chemotherapy and one course of radiation. 

"If I hadn't had access to this clinical trial, I would have faced further surgery, which would have been much more detrimental to my health, both at the time and for the rest of my life," she says.  

![Liv hospital bed.jpg](https://media.prod.vcgs.ninja/Liv_hospital_bed_f351334c99.jpg)
_Pictured: Olivia at 15 years old at the hospital._  

Today, Olivia is vibrant and healthy. "As a 23-year-old, seven years later I'm so much more confident that I was given the best chance possible in my situation to live a long, happy, healthy, life," she says.

![2.jpg](https://media.prod.vcgs.ninja/2_7252e44009.jpg)
_Pictured: Olivia today, with her father, Martin._ 

"It makes me excited to think that more people will have the same chance that I had. I think it's so important that we can reach as many people as possible," says Olivia. "I'm so healthy today and I want as many young children as possible to grow up and have the best chance at life." 

"This disease doesn't discriminate," she says. "Why should any family have to make the decision to have their child go through much more aggressive treatment because they can't afford the test?" 

This support from the Victorian Government is a significant step forward in the fight against brain cancer, providing patients with better diagnostic options and improving their treatment experiences. 

Health Minister & Olivia Phelan.jpg

Babies diagnosed with SMA typically show symptoms within the first six months of life. Without treatment, these infants usually do not survive beyond the age of two. The landscape is changing, however. SMA is now treatable, and early detection and treatment can make a big difference to the outcome. 

Communications Manager at VCGS 

Spinal muscular atrophy: newborn screening for early detection and treatment

### "If we had the opportunity to have her screened at birth and treated straight away, I am certain she would lead a typical childhood today. Unfortunately, we missed that window in the first three months."   
_- Adriana Baron, mother of Mariana (4), diagnosed with spinal muscular atrophy_

Mariana was born in March 2020, just as the World Health Organisation declared COVID-19 a pandemic. 

Following her birth, Mariana had an Apgar assessment. This is a standard procedure evaluating her immediate health by looking at her skin colour, pulse, breathing, muscle tone, and reflex response. She received a score within the normal range.  

Mariana's mother Adriana assumed all was well and chose to bring Mariana home to be with her dad and older sister, Valentina.  

**Something wasn’t right**

During the initial weeks at home, life revolved around typical newborn routines: sleep deprivation, frequent nappy changes, and feeding sessions. “It wasn’t until I was putting together a photo collage and had Mariana’s photo next to Valentina’s photo at the same age that I realised Mariana wasn’t lifting her head,” says Adriana.  

Adriana also recalls the occasions when Mariana did 'tummy time,' a crucial activity for babies to enhance neck and shoulder muscles and advance their motor skills. “She wasn’t lifting her head,” says Adriana. “I was thinking, ‘something’s not right here.’”  

Adriana attempted various methods to encourage Mariana to raise her head, but none afforded positive results. “One day, as she cried and cried, Mariana looked at me, and at that moment it felt as if she was communicating, conveying, ‘I can't do it,’” remembers Adriana. 

![Valentina at 2 months.jpg](https://media.prod.vcgs.ninja/Valentina_at_2_months_501b3fe83c.jpg)
_Pictured: Valentina at two months old._

![Mariana tummy time.jpg](https://media.prod.vcgs.ninja/Mariana_tummy_time_dcd5711dde.jpg)
_Pictured: Mariana not able to lift her head at the same age._

**Diagnosis**

Because of COVID-19 lockdowns, Adriana couldn't take Mariana to see the general practitioner (GP) but was able to send a video. The GP noticed Mariana wasn’t moving her legs. Despite a 6-month waitlist, the GP prioritised Mariana's speedy referral to a paediatrician. 

The paediatrician suggested it could be one out of three conditions – spinal muscular atrophy (SMA) being one of them. “At the time, I had no idea what SMA was,” says Adriana.  

The hospital neurologist and the test confirmed Marina had SMA. She was three months old.  

**Understanding SMA**

SMA is a genetic disorder affecting the nerves that control muscle movement. In Australia, approximately one in 40 people carry the altered gene responsible for the condition.  

Infants with SMA typically display symptoms within their first six months of life. Without intervention, their life expectancy is rarely beyond two years. However, advancements in treatment since 2018 have significantly improved outcomes, emphasising the importance of early detection and intervention.  

**Perspective shift**

The SMA diagnosis profoundly altered life for Adriana and her family. "When you have a baby, you don't think about these things. You assume you’re going to have a typical child and look forward to milestones like their first steps," says Adriana. "Instead, we were unsure about whether or not she would live." 

The neurologist advised Adriana and her husband of their options: they could admit Mariana to hospital for disease-modifying therapy or seek a palliative care approach. “That’s when everything changed,” says Adriana. “At that point, you start asking yourself, ‘How can I save her life?’ and ‘How can I make her life better than what the doctors say it can be?”.  

Babies with SMA experience severe muscle weakness, often resulting in the inability to reach essential developmental milestones such as head control, rolling, or sitting up without help. “Just imagining Mariana’s life like that was very overwhelming,” says Adriana.  

**Treatment**

Adriana and her husband began researching and connecting with other SMA community parents to understand the condition better. Empowered by this knowledge, they chose to pursue treatment for Mariana.  

Nusinersen, a disease-modifying therapy for all types of SMA was first made available through the pharmaceutical benefits scheme (PBS) in 2018. Mariana received treatment when she was three and a half months old. 

During this period, Adriana and her husband became aware of a gene therapy treatment known as onasemnogene abeparvovec being administered to children with SMA in the United States. They also learned that some Australian children had received this treatment. “We started to plan how we could get funding,” says Adriana. “Mariana didn’t have feeding or breathing issues, and we wanted to preserve those functions.” 

With the guidance of Mariana's neurologist, they applied for a government program to secure funding. Before becoming accessible through the PBS in March 2022, onasemnogene abeparvovec had a price tag of $2.5 million per treatment. With government support, Mariana received treatment when she was eight months old.  

![Mariana treatment.jpg](https://media.prod.vcgs.ninja/Mariana_treatment_cda3bf3b81.jpg)
_Pictured: Mariana, at eight months old, being treated with onasemnogene abeparvovec, a gene therapy._

Dr. Eppie Yiu, Mariana's neurologist and lead of the neuromuscular program at The Royal Children's Hospital Melbourne, highlights the remarkable progress in treating SMA thanks to approved disease-modifying therapies. “In the past, babies with SMA did not survive beyond the age of two, but today we see these children not only survive into childhood, but also thrive and have great quality of life. Children with infantile onset SMA who participated in the early clinical trials are now attending school which is wonderful to see. We know that early treatment results in better outcomes, which is why newborn screening for SMA is so important.” says Dr Yiu.  

**These days**

Mariana is now nearly four years old. “She’s a little miracle,” says Adriana. “She walks and almost runs. She’s very close to a typical child.”  

"If we had the opportunity to have her screened at birth and treated straight away, I am certain she would lead a typical childhood today. Unfortunately, we missed that window in the first three months." 

![IMG_7122.JPG](https://media.prod.vcgs.ninja/IMG_7122_fb9c6c1cea.JPG)
_Pictured: Mariana, these days. Aged (nearly) four with mother, Adriana._

**SMA now part of newborn screening**

The recent inclusion of SMA in the newborn screening program at VCGS offers every newborn in Victoria screening for SMA within their first few days of life. This allows timely detection and treatment during this critical period. 

“We take great pride in testing for life-threatening conditions through our newborn screening program at VCGS and opening up the path to effective treatments,” says Dr. Meg Wall, Executive General Manager - Laboratory at VCGS.  “Adding SMA to our newborn screening program underscores our commitment to getting our smallest patients in Victoria off to the best possible start in life.” 

A family sitting on the grass. Mother, father and 2 young daughters.

The Baron family.jpg

Starting today, all eligible Australians will have the opportunity to access subsidised screening, thanks to its inclusion in the Medicare Benefits Schedule. 

Group Leader, Reproductive Genetics at VCGS 

Medicare unlocks access to carrier screening for more Australians

### "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.  

![A woman holding a newborn](https://media.prod.vcgs.ninja/Karen_L_b5ad0a1269.jpg)  
##### 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](/prepair-carrier-screening). 

Our research has revealed that [one in 20](https://www.sciencedirect.com/science/article/pii/S1098360021018414?via%3Dihub) individuals in Australia are carriers of CF, FXS, or SMA, and approximately [one in 1,000](https://pubmed.ncbi.nlm.nih.gov/36579509/) couples face the risk of having an affected pregnancy.  

In 2018, we joined the [Mackenzie's Mission](https://www.mackenziesmission.org.au/) 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** [reproductivegc@vcgs.org.au](reproductivegc@vcgs.org.au) 


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