Genetic testing gives couples family planning choices

Mackenzie's Mission is a ground-breaking initiative which identifies the risk of having a child with a genetic condition.

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General public

Screening can make a difference

Testing before conception or in early pregnancy tells people if they carry gene faults for disorders that present in childhood. Severe genetic conditions include spinal muscular atrophy (SMA), cystic fibrosis and fragile X syndrome.

Mackenzie’s Mission gives couples the information they need to make choices.

Professor Martin Delatycki is the Medical Director of Victorian Clinical Genetics Services (VCGS). VCGS is the clinical genetic and genetic testing arm of the Murdoch Children’s Research Institute (MCRI). Along with Professors Edwin Kirk and Nigel Laing, he is co-lead investigator of Mackenzie’s Mission.

‘Genetic technology has advanced at an enormous rate’, he says. ‘And studying the way genetic screening can be offered is critical.’

Ten thousand couples will take part. The research will evaluate the outcomes of screening while addressing key concerns. These include the psychosocial impacts that couples report, and the test’s health economic impacts.

Importantly, the study explores the ethical issues that arise from screening.

‘Are we causing any harm?’ Professor Delatycki asks. ‘If so, how can we mitigate that?’

The moving story behind Mackenzie’s Mission

Rachael and Jonathan Casella are both carriers of SMA, but screening was not offered to them. Their daughter Mackenzie was 7 months old when she died in 2017.

‘Two things happened,’ Professor Delatycki recalls. ‘A group was speaking to Government about the importance of funded carrier screening. At the same time, Rachael and Jonny got in touch with Members of Parliament when their daughter died.’

Learning of Mackenzie’s diagnosis, her devastated parents vowed to stop it happening to others.

‘They’ve done an incredible job of raising awareness’, Professor Delatycki says. ‘That, in turn, has helped to achieve funding for the project.

Health Minister Greg Hunt named the project after Mackenzie.

How the funding boosts the findings

The nationwide collaborative research team has received close to $20 million from the Medical Research Future Fund to carry out Mackenzie’s Mission.

Professor Delatycki applauds the amount of the funding as well as the way it works.

‘Without the MRFF, it would have been incredibly difficult’, he says.

‘And it’s an incredible concept. That the interest from the money invested in the Fund goes straight back into medical research is just a brilliant idea. It’s been enormously helpful.’

The financial boost will allow a broad range of couples to benefit from genetic carrier screening. Professor Delatycki stresses that this is important if screening funding is to be equitable across the country.

‘The team has gone to great effort to ensure we’re recruiting across geographically diverse regions and finding ethnically diverse couples’, he explains.

Australian Genomics administers the project. The University of New South Wales, the University of Western Australia and the MCRI are all involved in the study. It forms part of the MRFF’s Genomics Health Futures Mission.

Research merges with the real world

The study’s three principal investigators link to medical practice as much as they do to academic organisations. Professor Kirk and Professor Delatycki are clinical geneticists while Professor Laing is an esteemed scientist. They bring a mix of research and laboratory expertise to the project, with decades of combined experience.

‘It’s a team exercise, and we’re part of a much bigger team’, Professor Delatycki says.

‘Year 1 was about getting ready and in 2020 we started screening.

The genetic carrier screening process is done online, with a mouth swab sent through the mail.

‘It’s COVID-19-proof,’ Professor Delatycki says. ‘The most important thing is that at the end of it we can answer critical questions about what Australians want from screening.’

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