Victorian Clinical Genetics Services (VCGS) welcomes the $500M allocation to investment in genomic research as part of the federal budget 2018.

The first research project 'Mackenzie's Mission' is a $20M trial into pre-conception genetic carrier screening for serious genetic conditions like cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

Mackenzie Casella was born with spinal muscular atrophy (SMA) and sadly died last year at seven months of age. Her parents were unaware that a genetic test could have alerted them to the fact they were both carriers of SMA before becoming pregnant. They started a campaign to raise awareness about genetic disorders and lobbied the Government to fund genetic carrier testing.  

In February 2018, Mackenzie's Mission was established — a three-year research study to be supported by the Medical Research Future Fund. 10,000 couples across Australia will be screened pre or in early pregnancy by next generation sequencing for more than 500 conditions. The aim is to study; uptake, incidence of high risk couples being identified, reproductive choices, psychosocial outcomes, health economic analysis, health systems analysis and ethical analysis.

VCGS expects to play a significant role in the project. VCGS Clinical Director Professor Martin Delatycki said 'The Government's announcement to invest in genomic research is wonderful recognition of the benefit of genomics for all Australians. Mackenzie's Mission will answer important questions about how reproductive screening should be offered and will hopefully lead to access to this testing for all Australians planning a pregnancy or in the early stages of pregnancy'.

The VCGS division of reproductive genetics currently offers a screening program called prepairâ„¢ which identifies couples at risk of having a child with spinal muscular atrophy (SMA), cystic fibrosis (CF) and fragile X syndrome (FXS).

These three genetic conditions have serious health consequences and are some of the most common inherited conditions in Australia. Testing can be performed using blood or saliva. Pivotal to the prepairâ„¢  program is the provision of genetic counselling and support services to help people make decisions about testing and to understand the results.

The VCGS genetic counselling team are available to discuss genetic carrier screening questions and options.

For more information visit prepair.

For more information, please contact the VCGS genetic counselling team.