Australia Leads the Way in Preventing Genetic Disorders: The Crucial Role of Thalassaemia Screening
Australia is making significant strides in preventing the transmission of debilitating genetic conditions. Last year, a world-first initiative was launched, offering couples planning a family free carrier screening for three crucial conditions: cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. This groundbreaking program is aimed at reducing the risk of passing on hereditary diseases to future generations.
Thalassaemia: A Hidden Risk for Australians of Greek Descent
While the program addresses common genetic conditions prevalent in the Australian population, Dr Hector Georgiou, a fertility specialist at Melbourne IVF, highlights an often-overlooked threat particularly relevant to Australians of Greek descent: Thalassaemia. This life-limiting inherited blood disorder is most common in populations from the Mediterranean, especially those along the Aegean coast, Greece and Turkey.
“Raising awareness about Thalassaemia and genetic screening is crucial for those with Greek heritage,” explains Dr Georgiou.
Understanding the Risk
Dr Georgiou, armed with an MD and Science PhD from Imperial College London, brings extensive expertise to his role at Melbourne IVF. With advanced training in obstetrics, gynaecology, and fertility, he emphasizes the importance of preconception carrier screening.
“In our Greek community, up to 7 per cent of us—seven in every 100—will carry the Thalassaemia gene,” he says.
While carrying one gene, or having Thalassaemia minor, does not affect the individual, the risk significantly increases when both partners carry the gene, leading to a one-in-four chance of having a child affected by Thalassaemia.
“In its most severe form, Thalassaemia is life-limiting, affecting many organs, including the heart, liver, and bones,” adds Dr Georgiou.
Technological Advancements: Empowering Informed Choices
Dr Georgiou encourages all prospective parents to consider genetic screening, at least for the three core conditions covered by Medicare, and for Thalassaemia in those with Mediterranean heritage. However, he understands that the decision to undergo testing is personal. “What do you do with the information?” he asks, highlighting the complex choices that may arise. He emphasizes the role of specialist genetic counsellors in explaining specific mutations and providing support to affected couples.
Technological advancements have revolutionized how genetic conditions are managed. Previously, couples often discovered risks only after pregnancy began, leaving them with difficult decisions. Now, with modern technology, couples facing a one-in-four chance of passing on a condition can use IVF to preimplantation genetic testing. This ensures only unaffected embryos are transferred, offering hope for parents seeking a healthy child.
Educating for the Future
Witnessing firsthand the challenges of conception, Dr Georgiou advocates for greater education about fertility and desired pregnancies, particularly for young people.
“There is a lot of focus on preventing unwanted pregnancies, but not enough on fertility and desired pregnancies, or even genetic risks,” he observes.
“Knowing about conditions like endometriosis and discussing egg freezing – a relatively new technology that is highly influential for women – are vital for young adults to consider, because age plays a significant role, especially in female fertility,” he stresses.