Australia made a significant move to prevent the transmission of life-limiting genetic conditions, such as Thalassaemia, by offering couples planning a family, free carrier screening for three specific conditions. This initiative, launched last year, is a world-first in reducing the chances of passing on hereditary conditions to future generations.
The program tests for the most common severe genetic conditions in the Australian population (cystic fibrosis, spinal muscular atrophy, and fragile X syndrome), but Dr Hector Georgiou, a fertility specialist at Melbourne IVF, highlights an often-overlooked genetic condition particularly relevant to Australians of Greek descent: Thalassaemia.
Derived from the Greek words thalassa (sea) and aema (blood), Thalassaemia is a life-limiting inherited blood disorder most prevalent among populations from the Mediterranean, especially in the Aegean; in Greece and along Turkey’s coastlines. According to Dr Georgiou, raising awareness about Thalassaemia and genetic screening is therefore critical for those with Greek heritage.
Understanding genetic risks
Dr Georgiou, armed with an MD and Science PhD from Imperial College London, combines extensive expertise with dedication at Melbourne IVF. With advanced training in obstetrics, gynaecology, and fertility, he stresses the importance of preconception carrier screening.
“If we look at our Greek community, up to 7 per cent of us—seven in 100—will carry the gene,” he explains.
While carrying one gene, or having Thalassaemia minor, does not affect the individual, the danger increases drastically when both partners are carriers, 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.”
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 recognises that the decision to undergo testing is personal. “What do you do with the information?” he asks, highlighting the complexity of the choices that may arise. He points to specialist genetic counsellors available to relay the nuance of specific mutations and offer support to affected couples.
Technological advances for informed choices
Advances in technology have transformed how genetic conditions are managed. Previously, couples discovered risks only after pregnancy began, leaving them to make difficult decisions.
“Now, with modern technology, if a couple has a one in four chance of passing on this condition, we can use IVF to test embryos before implantation.”
Dr Georgiou explains that this method ensures only unaffected embryos are transferred.
“The instinct of every parent-to-be is to do the best for their child,” the fertility specialist says. The specialist says that a growing number of Australian couples carrying mutations like BRCA are choosing IVF in the hope of eliminating this gene mutation from their family tree and lowering the risk of future generations developing breast or ovarian cancer.
He adds that IVF is a demanding process. “It’s stressful, time-consuming, and expensive.”
Educating future generations
Witnessing firsthand the challenges of conception, Dr. Georgiou believes that young people today, should learn more about fertility and desired pregnancies.
“In terms of education, there is a lot of focus on preventing unwanted pregnancies, and not so much on fertility and desired pregnancies, or even genetic risks.
“Knowing about conditions that affect fertility like endometriosis and discussing the topic of egg freezing as well -which is a fairly new technology- are really important for young adults to be thinking about, because age has such a big impact, especially on female fertility,” he says.
Innovating for better outcomes
Dr Georgiou’s research on fertility at the University of Melbourne also focuses on luteal phase support and endometriosis. He also leads a team at the University of Oxford in the design and commercialisation of a new egg collection needle, which has the capability to significantly boost egg numbers during IVF.
“It is satisfying, to help people who want a family. Then there is also the bigger picture – doing my bit for humanity, by creating something that can benefit the wider world. For me the most exciting project at the moment is the new egg collection needle.”
He says that the more eggs that can be collected for IVF, “the greater the chance of success in taking home a baby”.
“This innovation has such a huge potential,” adds the fertility scientist.
Dr Georgiou says that IVF is not a very successful treatment “as a whole” and adds that it often takes couples many attempts to conceive.
“So, every little bit we can do to improve outcomes, can make a difference.”
The human element
Dr Georgiou grew up in Cyprus which he says instilled in him a deep appreciation for family, community, and meaningful connections. He became concerned when he came across many couples struggling to conceive.
“I could see how it affected their entire being, and how achieving a family made such a huge difference to them,” he says.
The doctor says he shares the joy when his patients successfully bring a child into the world, and finds purpose in supporting couples through difficult situations, like navigating donor egg treatment or alternative routes to parenthood.
“Even in those more difficult scenarios, I think over time a person is able to appreciate that even though they didn’t get what they wanted, they were looked after, and supported through the process.
“Because, it can be quite a lonely journey for couples.”
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