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Medical Health Aged Care, Women

Lumi Launch: “Take the ‘sliding doors’ test” Australians planning pregnancy urged to consider simple swab test

Lumi Health 4 mins read

Media release: embargoed until 0500 AEDST Tuesday October 31. 2023

“Take the ‘sliding doors’ test”

Australians planning pregnancy urged to consider simple swab test 

Launch of ground-breaking genetic screening service: Lumi Health

Melbourne: All Australian would-be parents are urged to take a simple cheek swab test that could literally change their lives and potentially save them from the heartache of having a child with an incurable and devastating inherited genetic condition.

Today, with the launch of Lumi Health, Australian couples will have access to affordable and timely ground-breaking genetic screening services, including a test for 750 severe childhood-onset genetic conditions. This will empower couples planning a pregnancy to make informed family planning decisions. 

With a mission to ensure would-be-parents can be forearmed with their own genetic information, Lumi Health is set to transform the landscape of genetic screening in Australia and enhance the wellbeing of future generations.

Lumi Health Ambassador, Ms Rachael Casella, says she wished she had had access to genetic screening before becoming pregnant.

“One day, we had a beautiful, healthy baby and the next day we were told she would die,” Ms Casella says. ”I cannot describe the pain we felt and we will do everything we can to prevent another parent going through that pain.” 

A person kissing a person holding a babyDescription automatically generated

Ms Casella, and her husband Jonathan, lost their daughter Mackenzie (pictured left) at just seven months of age, after a debilitating battle with spinal muscular atrophy (SMA). Ms Casella has been tirelessly campaigning ever since for all Australian couples to have equitable and affordable access to reproductive genetic screening. 

The Casella’s passionate determination resulted in the $20 million Medical Research Future Fund research project into genetic carrier screening – known as Mackenzie's Mission. Now, two years following the completion of this study, Mackenzie’s legacy takes another a step forward with the Australian Government covering the cost (via bulk billing) for couples being screened for three of most common inherited conditions - cystic fibrosis, spinal muscular atrophy and fragile X syndrome.  

One in twenty people carry the gene for one of these conditions. Lumi Health will screen these three conditions for no out-of-pocket cost and will offer extended carrier screening options for up to another 750 inherited conditions, at a significantly reduced cost. The simple mouth swab can be done at home, anywhere in Australia.

Mackenzie’s Mission inspired the launch of Lumi Health, a tri-partnership between myDNA Australia (myDNA), Victorian Clinical Genetic Services (VCGS) and Murdoch Children's Research Institute (MCRI) - combining over 90 years of genetics experience and allowing the cost of reproductive screening to be heavily reduced. VCGS was the first to launch carrier screening in Australia in 2012 and was a key partner in delivering Mackenzie’s Mission.

VCGS Group Leader of Reproductive Genetic Counselling Dr Alison Archibald, describes genetic screening as a ‘sliding doors’ moment for couples planning a family.

Couples who have an increased chance of having children with any of these genetic conditions are offered support by highly trained genetic counsellors,” Dr Archibald says. “This enables them to make informed choices according to their own values.”

Professor Martin Delatycki AM, a Clinical Geneticist at VCGS and researcher at MCRI, says there is a misunderstanding by some that they should only ask for reproductive screening if there is a family history of a particular disease. “Any one of these 750 devastating genetic conditions are identified in one in 50 couples tested,’ Professor Delatycki says. “In most cases, there is no family history.”

Until now, the main option for Australian couples has been to use overseas testing laboratories with tests that were designed without Australians in mind. It was a costly, cumbersome and lengthy process, which in turn added further uncertainty and stress for the couple. 

Founding CEO of MyDNA, Dr Lior Rauchberger, says it is an exciting opportunity to combine expertise and experience from three genetics leaders to deliver this vital service. “Lumi Health can deliver its testing at an affordable price, lowering barriers and expanding access to cutting-edge genetic screening services for Australians,” he says.

Lumi Health, Mackenzie’s Mission and the Casella family believe that while this is the first time Australian couples can access more affordable carrier screening options, Mackenzie’s legacy will not be fully realised until all prospective parents can access their own genetic information to help inform their family planning choices.

A person and person holding a baby and a picture of a childDescription automatically generatedMs Casella says if she could share one piece of advice for couples considering a family, it is this: “Please take the ‘sliding doors’ test and be screened for any of these devastating genetic conditions. 

“It could save you from the unbearable heartache we continue to endure each and every day.” ENDS

Footnote: After IVF, Rachael and Jonathan now have two healthy and boisterous boys, Joshua (10 months) and Izaac (2 years), pictured left with a portrait of their sister who would have turned six this year. The anniversary of her passing was last fortnight. 

Media enquiries:

Jannette Cotterell. Executive Counsel Australia +61 419 204 059

More images of the Casella family can be found here.


Available for interview: 


Dr Alison Archibald

Professor Martin Delayticki AM

Ms Rachael Casella

Dr Lior Rauchberger



Lumi Ambassador



About Lumi Health 

The Lumi Health team has been working in genetics for over 35 years. We are medical doctors, genetic counsellors and scientists working together to provide world-leading reproductive genetic screening services to couples across Australia.

Lumi aims to make carrier screening services simple and easily accessible to help support informed reproductive planning. Through this collaborative effort, Lumi Health is set to establish more accessible testing services for Australians, providing families with a wealth of insights to make informed decisions about their future. 

The organisation is a collaboration between myDNA Australia (myDNA), Victorian Clinical Genetics Services (VCGS), and Murdoch Children's Research Institute (MCRI).



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