MBS funding secured for genetic screening of rare diseases

MedTech & Diagnostics News: In a significant step toward informed family planning, healthcare professionals across Australia are now urging prospective parents to undergo a simple yet revolutionary genetic screening test. Lumi Health, a pioneering genetic screening service, officially debuts today, aiming to empower couples who are planning to start a family.

Lumi Health is the result of a unique collaboration between three organisations, including myDNA Australia, Victorian Clinical Genetic Services (VCGS), and the Murdoch Children’s Research Institute (MCRI). With a combined experience of over 90 years in genetics research, this partnership promises to redefine family planning. Notably, among its advocates is Ms Rachael Casella, whose late daughter, Mackenzie, served as the inspiration for the $20 million Medical Research Future Fund (MRFF) project, known as Mackenzie’s Mission.

Like countless couples, Rachael Casella and her husband, Jonathan, had no inkling that they both carried the gene responsible for spinal muscular atrophy (SMA), a devastating genetic condition. They were unaware of the possibility of undergoing a genetic test before embarking on their parenthood journey.

“One day, we celebrated the arrival of a healthy baby, and the next, we were devastated by the news that she would not survive,” Ms Casella revealed. “I cannot adequately express the anguish we experienced, and we are committed to sparing other parents from enduring such a heart-wrenching ordeal.”

Starting today, the government will finance a genetic carrier screening test for three of the most common inherited conditions – cystic fibrosis, spinal muscular atrophy, and fragile X syndrome – via the Medicare Benefits Scheme (MBS). Lumi Health will provide these screenings at no cost to parents and offer extended carrier screening options for up to an additional 750 inherited conditions at a significantly reduced rate. The procedure is as simple as a mouth swab and can be carried out at home, accessible to anyone across Australia.

Dr Alison Archibald, Group Leader of Reproductive Genetic Counselling at VCGS, likens genetic screening to a “sliding doors” moment for couples considering parenthood.

“With the support of highly trained genetic counsellors, couples are empowered to make choices aligned with their values,” Dr Archibald explained. “Although the information may be challenging, people highly value this knowledge, as it shapes their decision-making regarding family planning.”

Statistics reveal that about one in every 50 couples who undergo extended genetic carrier screening discovers an increased risk of having children with a serious inherited condition.

South Melbourne GP, Dr Elaine Sung, makes it a point to encourage every couple contemplating pregnancy to undergo this straightforward cheek swab test.

“This testing is now more accessible than ever, and as healthcare professionals, we play a pivotal role in educating prospective parents about the significance of being forewarned regarding their genetic profiles before pregnancy.”

To counter the common misconception that only couples with a family history of a particular inherited condition are at risk, VCGS routinely hosts CPD education sessions. Additionally, Lumi Health has developed information brochures for General Practitioners to ensure that all relevant parties are well-informed.

The Founding CEO of MyDNA, Dr Lior Rauchberger, expressed his excitement at the prospect of combining the expertise and experience of three leading genetics institutions to provide this critical service. “Lumi Health is well-positioned to offer its testing at an affordable price, thus lowering barriers and extending access to state-of-the-art genetic screening services for all Australians.”

Lumi Health, Mackenzie’s Mission, and the Casella family all share the belief that while this marks the initial step toward more affordable carrier screening options for Australian couples, Mackenzie’s legacy will only truly come to fruition when all Australians can access comprehensive genetic carrier screening for all 750 severe inherited conditions. This revolutionary service promises to empower couples across the nation, ensuring their family planning decisions are well-informed and secure.

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