Every Australian or New Zealand child with a brain tumor will now be able to access a newly accredited diagnostic test, helping to tailor treatment accordingly. 

Transforming the diagnosis of children with brain cancer

##### Stylised image of a research sample from an array scanner showing gains and losses in chromosomes. Image from Victorian Clinical Genetic Services 
  

>“It is so important to develop the expertise and capacity to undertake this testing in Australia, as it will enable us to future-proof our ability to quickly and accurately diagnose children with brain cancer and ensure Australian researchers remain at the forefront of paediatric cancer diagnostics.” - Dr Meg Wall, Acting Chief Executive Officer, VCGS

The AIM-BRAIN PROject team has successfully secured NATA accreditation for a pivotal diagnostic tool for patients diagnosed with brain cancer. This means that every Australian or New Zealand child with a brain tumour can access the accredited diagnostic test, building the clinical team’s detailed diagnosis of each child’s brain tumour and helping to tailor treatment accordingly. 

From December 2022, molecular profiling developed through the AIM-BRAIN PROject (Access to Innovative Molecular Diagnostic PROfiling for Paediatric Brain Tumours) that was sponsored by Australian and New Zealand Children’s Haematology/Oncology Group (ANZCHOG) will become an accredited diagnostic test for brain cancers available from Victorian Clinical Genetic Services (VCGS). 

The achievement of the NATA accreditation is a huge milestone in the transition from a research project to a certified pathology test. With the research project now closed, the test is readily available from VCGS on an ongoing basis.  

Despite the outstanding success in the treatment of many childhood cancers in the past two decades, curative treatment for many children with brain cancers remains an ongoing challenge. In Australia, brain cancer kills more children than any other disease each year. Recent studies have shown that brain cancers can be classified into distinct tumour sub-groups via molecular profiling, and each of these tumour groups respond differently to various treatments. 

The AIM-BRAIN PROject was established in 2017 as a research study to develop methylation array profiling for Australian and New Zealand children diagnosed with brain tumours. Initially, children were enrolled on the German-led research program, Molecular NeuroPathology 2.0 study (MNP2.0), which provided immediate access to this cutting-edge platform, while the technology was established and validated in Australia via the AIM-BRAIN PROject. NATA accreditation is a huge achievement, placing Australia alongside the United States, Canada and United Kingdom as one of the few countries world-wide to offer clinically validated methylation profiling. 

“The success of AIM-BRAIN demonstrates the value of methylation profiling,” said Dr Meg Wall, Acting Chief Executive Officer of VCGS, a wholly owned subsidiary of Murdoch Children’s Research Institute. “It is so important to develop the expertise and capacity to undertake this testing in Australia, as it will enable us to future-proof our ability to quickly and accurately diagnose children with brain cancer and ensure Australian researchers remain at the forefront of paediatric cancer diagnostics.” 

“NATA accreditation is a fundamental step to provide confidence around accuracy and consistency of the results, as well as longer term sustainability of the platform here in Australia,” said Professor Nick Gottardo, Chair of ANZCHOG and Co-Chair of the AIM-BRAIN PROject. “We have leveraged our connections with our international colleagues at the German Cancer Research Centre (DKFZ) so our children have access to the latest, world-leading diagnostic tools.” 

“Clinically, these results complement our traditional tests and are invaluable for determining the best treatment for a child, particularly if they have a complex brain tumour. Around 20% children enrolled in the AIM-BRAIN PROject had their treatment altered due further information obtained through AIM- BRAIN. This means we are giving the most appropriate therapies to minimise the burden of treatment side-effects and give our children the greatest chance of long-term survival.” 

The Robert Connor Dawes Foundation, Carrie's Beanies for Brain Cancer and the Australian Government through Cancer Australia have supported the establishment and conduct of the AIM-BRAIN PROject. 

The AIM-BRAIN PROject will close to recruitment from December 2022, with patient outcomes to be followed up for a further 10 years. 

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The government backed Newborn Bloodspot Screening (NBS) program has successfully found two cases of Congenital Adrenal Hyperplasia (CAH) in Victorian babies since starting screening in July this year.

Newborn screening success

A newborn pilot program screening for genetic conditions that limit hormone production in the adrenal glands has already uncovered two cases since launching two months ago.

The heel prick test, delivered in Victoria by [Victorian Clinical Genetics Services (VCGS)](https://www.vcgs.org.au/) in partnership with the [Victorian Department of Health](https://www.vic.gov.au/department-health), identifies babies that have rare, but serious medical conditions such as cystic fibrosis and hypothyroidism. Early diagnosis allows for timely medical intervention and better treatment outcomes. About one in 1000 babies will be found to have one of these serious conditions. Last year, the Victorian Department of Health announced a $1 million [Newborn Bloodspot Screening (NBS)](https://www.vcgs.org.au/tests/newborn-bloodspot-screening) program to develop a pilot project to screen for Congenital Adrenal Hyperplasia (CAH).

The program has successfully found two cases of CAH in Victorian babies since screening started in July this year.

VCGS Deputy Head of Biochemical Genetics [Associate Professor Ronda Greaves](https://www.mcri.edu.au/users/dr-ronda-greaves) , who welcomed the funding, said she looked forward to the positive impact this would have on affected babies.

“CAH can be diagnosed through the simple heel prick test and treated through relatively inexpensive medication. If left untreated, newborns can become extremely unwell and may die suddenly in the early weeks of life.”

Health Minister Mary Anne Thomas said the Government was proud to support VCGS in this important work, helping to identify newborns at risk of developing serious illnesses and providing treatment early, "This is another example of how Victoria is providing evidence-based screening and testing to improve health outcomes of newborn babies and their families,” she said.

**What is Congenital Adrenal Hyperplasia (CAH)?**

CAH affects the adrenal glands, a pair of walnut-sized organs above the kidneys, which produce key hormones that play critical roles in the body’s response to illness and stress. Infants with CAH lack an enzyme required to make these hormones, which can result in very low cortisol and salt levels and dangerously high potassium levels.

**What does this mean for Victorian babies?**

This funding means Victorian babies with CAH will be identified early and receive care. This reduces the need for emergency care and optimises their treatment options. Currently, CAH is often missed in newborns, as the presentation can be attributed to other more common conditions.

**Jack’s story: Before CAH was added to NBS**

After Jo and Dan brought their two and a half-week-old baby boy Jack to Bendigo Hospital, he was experiencing a life-threatening health crisis, which caused him to be significantly dehydrated with extremely low levels of salt and high levels of potassium. His heart rhythm was abnormal, and he required intensive care management at The Royal Children’s Hospital. The cause: undiagnosed CAH.

Doctors at the hospital ordered the appropriate tests and diagnosed CAH. Happily, baby Jack recovered well and was discharged home on the necessary medications to replace the hormones and electrolytes needed to treat CAH. He is now five years old and lives a very healthy and active life.

“When diagnoses are delayed, there is not only the significant impact and psychological distress to the family of their newborn baby becoming very unwell, but there is also a high economic and healthcare resource burden of such an admission. This can be prevented through NBS,” said Dr Michele O’Connell, consultant endocrinologist at The Royal Children’s Hospital.

VCGS is committed to providing and continually improving screening and diagnostic testing for Victorian babies and families. Working in partnership with the Victorian Department of Health to include serious genetic conditions like CAH on the NBS program embodies this mission and supports quality care.

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Learn more about genetic carrier screening and how it is relevent for you and your family.

Why carrier screening is relevant to you

Genetic carrier screening tells you about your chance of having children with an inherited genetic condition. This type of information can be useful when planning a pregnancy, or in early pregnancy.

**How does carrier screening work?**

Genetic carrier screening can be done when you are planning a pregnancy, or when you or your partner are in early pregnancy.

Carrier screening involves testing you and your reproductive partner to find out if you are carriers for a genetic condition.

If you and your partner are both carriers for the same condition, you usually have a 1 in 4 (or 25%) chance of having a child with that condition.

Knowing this information can be useful when planning your family.

**Who should be offered carrier screening?**

Approximately [1 in 20 people](https://www.sciencedirect.com/science/article/pii/S1098360021018414?via%3Dihub) in Australia are carriers for at least one of the three most common genetic inherited conditions in our population: fragile X syndrome (FXS), spinal muscular atrophy (SMA) and cystic fibrosis (CF). These disorders have a significant impact on quality of life for those affected and for their families.

Research from Victorian Clinical Genetic Services (VCGS) has [shown](https://www.sciencedirect.com/science/article/pii/S1098360021018414?via%3Dihub) that nearly 90% of people who are identified as a carrier for these conditions have no family history of the condition.

“Many children affected by these conditions are born to families with no history”, said Dr Alison Archibald, Genetic Counsellor at VCGS.

The [Royal Australian and New Zealand College of Obstetricians and Gynaecologists](https://ranzcog.edu.au/) (RANZCOG) and [Royal Australian College of General Practitioners](https://www.racgp.org.au/) (RACGP) recommend every woman is offered information about carrier screening for CF, SMA or FXS, at a minimum, when they are considering pregnancy.

“Everyone should get the option of considering carrier screening, so they can make a choice about whether it is right for them,” said Dr Archibald.

**What support is there for people undergoing carrier screening?**

Genetic counselling is an integral part of any genetic testing process and access to a genetic counsellor should be readily available for people completing carrier screening.

A genetic counsellor is a specialised health professional, who can support you through understanding your results, any genetic implications of those results, and what your next steps might be.

“Meeting with a genetic counsellor is about talking about your test results and options, but it's also about being provided emotional support during a time of lots of sometimes complex information”, said Dr Archibald.

“It’s ideal to use a screening service that provides a comprehensive genetic counseling support, because usually that means you can access a genetic counselor when you need them.”

_Dr Alison Archibald recently featured on_ [_The Good GP podcast_](https://podcasts.apple.com/au/podcast/genetic-carrier-screening-episode-103/id1212751478?i=1000551850360)_, with Dr Krystyna de Lange._

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