Carrier screening is relevant to everyone planning a pregnancy. Senior genetic counsellor, Dr. Alison Archibald talks about the importance of carrier screening in a couple’s reproductive journey.

Group Leader, Reproductive Genetics at VCGS

Parents-to-be, would you want to know if you’re a carrier of a genetic condition? 

**“Approximately one to two percent of people who have genetic carrier screening learn that they have an increased chance of having children with a serious inherited condition.”**
**_- Dr. Alison Archibald, Group Leader, Reproductive Genetics at VCGS_**

Our research has shown [1 in 20](https://www.sciencedirect.com/science/article/pii/S1098360021018414?via%3Dihub) people in Australia are carriers of one of the three most common genetic inherited conditions in our population: cystic fibrosis (CF), fragile X syndrome (FXS), spinal muscular atrophy (SMA). Approximately 1 in 1,000 couples may have an affected pregnancy.         

We have a long history in genetic carrier screening, being the first provider of general population carrier screening for CF in 2006 and developing the first three-condition carrier screen - adding FXS and SMA in 2012. 

In 2018, we became partners in the Mackenzie’s Mission research study. This study looked at how best to implement carrier screening services within the population and offered testing to over 10,000 Australian couples. 

In March last year, the Federal Government announced a new plan to make genetic carrier screening for CF, SMA and FXS accessible under Medicare, with the funding forming part of the 2022/23 Federal Budget. 

![MM_image.png](https://media.prod.vcgs.ninja/MM_image_df21d3a0de.png)

**ABOUT MACKENZIE’S MISSION**

Mackenzie was a perfect little baby – the picture of health, but at 10 weeks old, she was diagnosed with a condition called spinal muscular atrophy (SMA) – a severe inherited neuromuscular condition without a cure. 

 Mackenzie’s parents Rachael and Jonathan Casella were devastated. The couple had no family history of genetic conditions and undertook all the recommended preparations to have a healthy child. They had never heard of SMA and weren’t aware they were both genetic carriers for the condition. As ‘carriers’, the couple do not have the condition themselves, but have an increased chance of having children with SMA. 

In October 2017, Mackenzie Casella passed away at just seven months and 11 days old. Believing no couple should face this tragedy, the Casellas launched a campaign calling for reproductive genetic carrier screening to be routine and free for all prospective parents in Australia. 
 
**What is reproductive genetic carrier screening?**

Reproductive genetic carrier screening is genetic testing that can tell people if they have an increased chance of having children with a serious genetic condition. Approximately one to two percent of people who undergo genetic carrier screening learn that they have an increased chance of having children with a serious inherited condition.  

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**What conditions can be screened?**

The current options available can be grouped into two categories:  

Small panel screening which focuses on common, severe conditions where evidence supports screening. This is typically offered as a three-condition screen, screening for the most common inherited conditions in our population (CF, FXS and SMA).  

Large panel screening includes a much wider range of conditions which are present in childhood and are often severe. This includes common conditions as well as many rare conditions.  

VCGS was the first in Australia to provide genetic carrier screening for the three common inherited conditions (CF, FXS and SMA), through one test - later called _prepair_ 3.  

A few years later, we expanded our screening to cover a wider range of genetic conditions, covering over 500 genes. We called this test _prepair_ 500. And this year, we've launched Australia’s first carrier screening service that covers more than 1000 genes: _prepair_ 1000+.  

Learn more about [prepair screening options](https://www.vcgs.org.au/prepair-carrier-screening/).

**Who should have genetic carrier screening?**

Reproductive genetic carrier screening is relevant to everybody - either before or in early pregnancy, regardless of family history, ethnic background or ancestry. Our research shows the number one misconception about carrier screening is that individuals believe they must have a family history in order to consider screening. What we know, however, is that most children with these conditions are born into families where there is no prior history.  

**Who can I talk to about carrier screening?**

Families come in all shapes and sizes, and carrier screening is relevant to everyone. Deciding whether to have carrier screening as well as which option to take, is a personal decision.   

Our genetic counsellors are available to answer all your questions about carrier screening. Genetic counsellors can help you consider the pros and cons and decide which option is the best for you and your personal situation.  


::contactUs{heading="Contact our team" textLabel="" phoneNumber="(03) 9936 6402" email="screeninggc@vcgs.org.au" website="" fax="" idPrefix="carrier-screening-news-prepair1000"}

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VCGS Medical Director, Professor Martin Delatycki has been appointed as a Member of the Order (AM) in the General Division of the Order of Australia. The award recognises his significant service to medicine, genetic research and education.

Professor Martin Delatycki appointed to the Order of Australia

##### Professor Martin Delatycki, Medical Director, VCGS
  

>“I feel touched that people have taken the time to nominate me for this award.” - Professor Martin Delatycki, Medical Director, VCGS

In the Australian honours system, appointments to the Order of Australia confer the highest recognition for outstanding achievement and service. The Order of Australia is the pre-eminent way Australians recognise the achievements and service of their fellow citizens. 

Nominations for awards in the General Division of the Order of Australia come directly from the community. Nominations are considered by the Council for the Order of Australia which makes recommendations directly to the Governor-General. 

This Australia Day, VCGS Medical Director, Professor Martin Delatycki was appointed a Member of the Order (AM) in the General Division of the Order of Australia. 

The prestigious Australia Day honour was awarded in recognition of his significant service to medicine, genetic research and education. 

“I feel touched that people have taken the time to nominate me for this award,” says Professor Delatycki. "I don't know who is responsible, but I do appreciate it." 

Professor Delatycki is most proud of the research he and his team have done and the genetic screening programs he has helped set up, including reproductive screening in the Jewish community.   

“I am also proud of the PhD students I have supervised who have gone on to become leaders in their field,” he says.  

Professor Delatycki is a Clinical Geneticist with extensive genomics experience. He has been the Medical Director of VCGS since 1997 and Co-Director of the Murdoch Children's Bruce Lefroy Centre, which conducts research into genetic diseases, since 2003. 

He is Co-Lead Investigator, Chair of the Research Committee, and Co-Chair of the Clinical Committee of Mackenzie's Mission, within Australian Genomics, and is a member of the Australian Society for Medical Research and the Human Genetics Society of Australasia.  
 
Professor Delatycki is an Honorary Professor at the University of Melbourne  and Monash University and has authored or co-authored over 350 publications. He has been the recipient of awards including the Bronya Keats International Research Collaboration Award from the Friedreich's Ataxia Research Alliance in 2013, and he has made a significant contribution to genetics in Australia. 

 

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Every Australian or New Zealand child with a brain tumour 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. 