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Lumi Health: Revolutionising family planning with affordable genetic screening Doctors urged to encourage ‘sliding doors’ test

Lumi Health 3 mins read

Media release: Embargoed until Wednesday November 01, 2025

Lumi Health:  Revolutionising family planning with affordable genetic screening

Doctors urged to encourage ‘sliding doors’ test

Melbourne: Healthcare professionals are being asked to encourage would-be parents to take a simple cheek swab test that screens for their chance of having a child with a severe childhood-onset inherited genetic condition.

Today marks the launch of a ground-breaking genetic screening service, Lumi Health, aimed at empowering Australian couples planning a pregnancy to make informed family planning decisions.

A person kissing a person holding a babyDescription automatically generatedLumi Health is a tri-partnership between myDNA Australia (myDNA), Victorian Clinical Genetic Services (VCGS) and the Murdoch Children's Research Institute (MCRI) - combining over 90 years of genetics experience. Among its ambassadors is Ms Rachael Casella, whose late baby daughter Mackenzie (pictured) inspired the $20 million Medical Research Future Fund (MRFF) project into genetic carrier screening - known as Mackenzie's Mission

Like many couples, Ms Casella and her husband Jonathan had no idea they were both carrying the gene for the devastating condition spinal muscular atrophy (SMA), let alone know that there was a genetic test they could have taken 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.”

From today, the Australian Government will fund, via the Medicare Benefits Scheme (MBS), a genetic carrier screening test for three of the most common inherited conditions - cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

Lumi Health will screen these three conditions for no out-of-pocket cost to parents and will offer expanded 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. 

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

With the support of highly trained genetic counsellors, couples are empowered to make choices according to their own values,” Dr Archibald says. ”While the news can be difficult, people value this information and it informs their decision-making around having a family.” 

About one in 50 couples who undergo expanded genetic carrier screening, learn they have an increased chance of having children with a serious inherited condition. 

South Melbourne GP Dr Elaine Sung, says she always encourages any couple planning a pregnancy to take the simple cheek swab test. “This testing is now more accessible than ever and, as doctors, we have a role to play to educate prospective parents how vital it is to be forewarned about their own genetic profile before pregnancy.”

To address the common misunderstanding that only couples who have a family history of a particular inherited condition are likely to be carriers, VCGS regularly hosts CPD education sessions and Lumi Health has created information brochures for GPs.

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 Australians can universally access extended genetic carrier screening for all of the 750 severe inherited conditions.  

“This will be Mackenzie’s legacy,’ says Ms Casella. ENDS

Media enquiries: Jannette Cotterell. Executive Counsel Australia +61 419 204 059 jcotterell@executivecounsel.com.au

More images of the Casella family can be found here.

 

Available for interview: 

Dr Alison Archibald

Dr Elaine Sung

Dr Lior Rauchberger

MCRI & VCGS

Doctors of South Melbourne

myDNA

 

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

Website: www.lumihealth.com.au

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